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searching for Splice site mutation 69 found (83 total)

Kohlschütter–Tönz syndrome (2,147 words) [view diff] no match in snippet view article find links to article

Kohlschütter–Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a rare inherited syndrome characterized by epilepsy, psychomotor

BTNL2 (764 words) [view diff] exact match in snippet view article find links to article

et al. (April 2005). "Sarcoidosis is associated with a truncating splice site mutation in BTNL2". Nature Genetics. 37 (4): 357–364. doi:10.1038/ng1519.

SPTB (1,053 words) [view diff] exact match in snippet view article find links to article

Costa F, Scarpa A, Boivin P, Delaunay J, Forget BG (August 1991). "A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis

Fraser syndrome (1,526 words) [view diff] exact match in snippet view article find links to article

syndrome. Analysis of the FRAS1 gene revealed homozygosity for a splice site mutation (607830.0008), resulting in a severely truncated protein in both

TSHB (1,037 words) [view diff] exact match in snippet view article find links to article

hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene". J. Clin. Endocrinol. Metab. 87 (1):

XK (protein) (314 words) [view diff] exact match in snippet view article

(March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84.

Tissue alpha-L-fucosidase (877 words) [view diff] exact match in snippet view article find links to article

PMID 7874128. Williamson M, Cragg H, Grant J, et al. (1993). "A 5' splice site mutation in fucosidosis". J. Med. Genet. 30 (3): 218–23. doi:10.1136/jmg.30

Peters-plus syndrome (769 words) [view diff] exact match in snippet view article find links to article

"Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure"

TTC8 (634 words) [view diff] no match in snippet view article find links to article

PMID 14702039. Riazuddin SA, Iqbal M, Wang Y, et al. (2010). "A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa"

KRT31 (755 words) [view diff] exact match in snippet view article find links to article

H, Hofmann I, Langbein L, Rogers MA, Schweizer J (Dec 1997). "A splice site mutation in the gene of the human type I hair keratin hHa1 results in the

Extracellular matrix protein 1 (798 words) [view diff] no match in snippet view article find links to article

PMID 14702039. Horev L, Potikha T, Ayalon S, et al. (2006). "A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis"

AP1S2 (1,036 words) [view diff] exact match in snippet view article find links to article

2 subunit". Huo L, Teng Z, Wang H, Liu X (March 2019). "A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree

McLeod syndrome (953 words) [view diff] exact match in snippet view article find links to article

(March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84.

Eyes absent homolog 4 (706 words) [view diff] exact match in snippet view article find links to article

S2CID 20167944. Hildebrand MS, Coman D, Yang T, et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss". Am. J. Med. Genet. A. 143 (14):

Collagen, type VI, alpha 1 (1,022 words) [view diff] exact match in snippet view article find links to article

PMID 9580662. Pepe G, Giusti B, Bertini E, et al. (1999). "A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen

Shwachman–Diamond syndrome (2,484 words) [view diff] exact match in snippet view article find links to article

gene conversion mutations predominate in SDS patients. One is a splice site mutation affecting the 5' splice site of intron two, while the second is an

ABCG5 (1,144 words) [view diff] exact match in snippet view article find links to article

S2CID 10011192. Lam CW, Cheng AW, Tong SF, Chan YW (Feb 2002). "Novel donor splice site mutation of ABCG5 gene in sitosterolemia". Molecular Genetics and Metabolism

Uroporphyrinogen III decarboxylase (1,236 words) [view diff] exact match in snippet view article find links to article

Franklin KF, et al. (1990). "Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria

Laminin, beta 3 (1,004 words) [view diff] exact match in snippet view article find links to article

(1998). "Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa"

TULP1 (910 words) [view diff] no match in snippet view article find links to article

Batlle IR, Batlle KG, et al. (1999). "Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration". Invest. Ophthalmol

Distal spinal muscular atrophy type 2 (218 words) [view diff] no match in snippet view article find links to article

X; Wang, J; Wu, L; Xia, K; Tang, B; Zhang, R (2015). "A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy". Neurology. 84 (24): 2430–7

Integrin beta 4 (1,489 words) [view diff] no match in snippet view article find links to article

"Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with

NOTCH3 (1,369 words) [view diff] exact match in snippet view article find links to article

Ruchoux MM, Lucas C, Leys D, Bousser MG, Tournier-Lasserve E (2000). "Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL".

Apolipoprotein C-II (1,106 words) [view diff] exact match in snippet view article find links to article

PMID 3192518. Fojo SS, Beisiegel U, Beil U, et al. (1988). "Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient

Spectrin, alpha 1 (1,026 words) [view diff] exact match in snippet view article find links to article

Characterization of the molecular defect as exon skipping due to a splice site mutation". J. Clin. Invest. 88 (1): 76–81. doi:10.1172/JCI115307. PMC 296005

FTSJ1 (666 words) [view diff] exact match in snippet view article find links to article

Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF (Sep 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with

Alternating hemiplegia (1,394 words) [view diff] exact match in snippet view article find links to article

de-novo missense mutation and one patient was identified with de-novo splice site mutation. De novo mutation is a mutation that occurs in the germ cell of one

Gamma-aminobutyric acid receptor subunit gamma-2 (1,412 words) [view diff] no match in snippet view article find links to article

W, Hallmann K, Rebstock J, Heils A, Steinlein OK (July 2002). "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile

Chronic recurrent multifocal osteomyelitis (1,141 words) [view diff] exact match in snippet view article find links to article

PMID 17496555. Al-Mosawi, Al-Saad; Ijadi-Maghsoodi, El-Shanti (2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". Arthritis & Rheumatism

PIGN (gene) (508 words) [view diff] exact match in snippet view article

(September 2014). "Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia". European

Spastin (1,032 words) [view diff] no match in snippet view article find links to article

Ashley-Koch AE, Pericak-Vance MA, Marchuk DA (2002). "A second leaky splice-site mutation in the spastin gene". Am. J. Hum. Genet. 69 (6): 1407–9. doi:10.1086/324593

PRPF31 (1,545 words) [view diff] no match in snippet view article find links to article

PMID 15057824. Xia K, Zheng D, Pan Q, et al. (2004). "A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa"

Kidd antigen system (1,181 words) [view diff] exact match in snippet view article find links to article

400) and Niueans (1.4%). In Polynesians the null allele contains a splice site mutation in intron 5 causing a loss of exon 6 from the mRNA product.[citation

ADAMTS17 (649 words) [view diff] no match in snippet view article find links to article

Shetty JS, Kumar A (2014). "Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome".

ARHGAP11B (789 words) [view diff] exact match in snippet view article find links to article

Namba T, Pääbo S, Hiller M, Huttner WB (December 2016). "A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification"

TRIM37 (1,318 words) [view diff] exact match in snippet view article find links to article

S, Arning L, Stefanski A, Strehl H, et al. (June 2003). "A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with

Epidermolysis bullosa dystrophica (1,229 words) [view diff] no match in snippet view article find links to article

Horváth A, Kárpáti S, et al. (May 2005). "High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance

Pyruvate dehydrogenase kinase (1,711 words) [view diff] exact match in snippet view article find links to article

White SN, Oyama MA, Mauceli E, Lindblad-Toh K (August 2012). "A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated

Paraplegin (1,256 words) [view diff] exact match in snippet view article find links to article

Schirmacher A, Mohammadi S, Schwindt W, Lohmann H, et al. (2010). "A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and

Congenital hypoplastic anemia (2,327 words) [view diff] exact match in snippet view article find links to article

El‐Shanti, Hatem I.; Ferguson, Polly J. (February 28, 2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". Arthritis & Rheumatism

Retinitis pigmentosa GTPase regulator (2,273 words) [view diff] exact match in snippet view article find links to article

Bergen AA, Van Dorp DB, Wright AF (1999). "Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)"

PASLI disease (1,244 words) [view diff] exact match in snippet view article find links to article

events. A variant of PASLI disease can all be caused by heterozygous splice site mutation in PIK3R1, which encodes the p85α, p55α, and p50α regulatory PI3K

Low-density lipoprotein receptor adapter protein 1 (1,118 words) [view diff] exact match in snippet view article find links to article

Aguilar-Salinas CA, Huertas-Vázquez A, et al. (2005). "A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia"

Factor XII (3,097 words) [view diff] exact match in snippet view article find links to article

Bartz U, Lutze G, Lämmle B, Engel W (July 1995). "The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript

X-linked intellectual disability (2,017 words) [view diff] exact match in snippet view article find links to article

Errijgers V, Platzer M, Schwartz CE, et al. (September 2004). "A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with

FGD1 (1,607 words) [view diff] exact match in snippet view article find links to article

one in-frame deletion (2020_2022delGAG) and the first reported splice site mutation (1935þ3A→C). Increased expression of FGD1 correlates with tumor aggressiveness

Growth hormone-binding protein (2,742 words) [view diff] exact match in snippet view article find links to article

with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain"

C1-inhibitor (2,182 words) [view diff] exact match in snippet view article find links to article

Siddique Z, McPhaden AR, Lappin DF, Whaley K (December 1991). "An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema".

SCNN1A (3,168 words) [view diff] no match in snippet view article find links to article

Strautnieks SS, Thompson RJ, Gardiner RM, Chung E (June 1996). "A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three

SCNN1B (3,035 words) [view diff] no match in snippet view article find links to article

Strautnieks SS, Thompson RJ, Gardiner RM, Chung E (Jun 1996). "A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three

Benign familial neonatal seizures (2,580 words) [view diff] exact match in snippet view article find links to article

Biervert C, Hallmann K, Tay A, Dean J, Steinlein O (2000). "A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family". Neuropediatrics

Sigma-1 receptor (3,054 words) [view diff] no match in snippet view article find links to article

Hu Z, Liu L, Xie Y, Zhan Y, Zi X, et al. (June 2015). "A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy". Neurology. 84 (24): 2430–2437

Collagen, type XVII, alpha 1 (3,010 words) [view diff] no match in snippet view article find links to article

the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis

Primary pigmented nodular adrenocortical disease (1,578 words) [view diff] no match in snippet view article find links to article

PRKAR1α protein, detected in tumours and leukocytes, following a splice-site mutation, which causes exon-6 skipping. Therefore, both haploinsufficiency

SCNN1G (3,401 words) [view diff] no match in snippet view article find links to article

Strautnieks SS, Thompson RJ, Gardiner RM, Chung E (Jun 1996). "A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three

Sandhoff disease (3,024 words) [view diff] exact match in snippet view article find links to article

et al. (1994). "Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests

Parathyroid hormone (4,307 words) [view diff] exact match in snippet view article find links to article

1021/bi00680a006. PMID 1125201. Parkinson DB, Thakker RV (May 1992). "A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive

Pachydermoperiostosis (3,420 words) [view diff] exact match in snippet view article find links to article

S2CID 37699664. Sinibaldi L, et al. (2010). "A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy"

USH1C (2,858 words) [view diff] no match in snippet view article find links to article

Athas G, Deininger P, Keats B (February 2005). "The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion". Human Genetics. 116 (3): 225–227

Dysosteosclerosis (2,214 words) [view diff] exact match in snippet view article find links to article

in the gene in one of the alleles of chromosome 11 resulting in a splice site mutation. Despite a frameshift mutation altering the C-terminal of the proton

HERC1 (1,525 words) [view diff] exact match in snippet view article find links to article

Aggarwal S, Bhowmik AD, Ramprasad, VL, Murugan S, Dalal A (2016). "A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly

CUL4B (2,948 words) [view diff] no match in snippet view article find links to article

Perria C, Serra G, Alesi V, Surrey S, Fortina P (2014). "Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability". Am

Evolution of the brain (8,169 words) [view diff] exact match in snippet view article find links to article

Namba T, Pääbo S, Hiller M, Huttner WB (December 2016). "A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification"

Causes of hearing loss (4,693 words) [view diff] exact match in snippet view article find links to article

first gene mapped for non-syndromic deafness, DFNA1, involves a splice site mutation in the formin-related homolog diaphanous 1 (DIAPH1). A single base

Phyllis Gardner (clinical pharmacologist) (4,090 words) [view diff] case mismatch in snippet view article

the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report", The Cleft Palate-Craniofacial Journal

List of dog diseases (14,821 words) [view diff] exact match in snippet view article find links to article

Lahmers S, Keene BW, White SN, Oyama MA, Mauceli E, Lindblad-Toh K. A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated

De novo mutation (10,140 words) [view diff] exact match in snippet view article find links to article

function. This can be caused by a de novo frameshift, nonsense or splice site mutation. This disrupts the structure in some way leading to a change that

Nuclear mitochondrial DNA segment (6,825 words) [view diff] exact match in snippet view article find links to article

pulmonary segmentation anomalies such as bilateral bilobed lungs. A splice site mutation in the human gene for plasma factor VII that causes severe plasma

2022 in science (49,053 words) [view diff] exact match in snippet view article find links to article

Hiller, Michael; Huttner, Wieland B. (2 December 2016). "A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification"