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searching for Allelic heterogeneity 30 found (42 total)

Camarillo White Horse (843 words) [view diff] case mismatch in snippet view article find links to article

Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, et al. (2007) "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses." PLoS Genet

Uner Tan syndrome (1,496 words) [view diff] exact match in snippet view article find links to article

in the VLDLR gene to result in the same phenotype as a result of allelic heterogeneity. In the Iskenderun family, a different gene, WDR81 on chromosome

Galactosamine-6 sulfatase (989 words) [view diff] exact match in snippet view article find links to article

in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome". Hum. Mutat. 10 (3): 223–32

Spinocerebellar ataxia type-13 (511 words) [view diff] exact match in snippet view article find links to article

V, Pulst S (2005). "An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?". Neurology. 65 (7): 1111–3. doi:10.1212/01

Sodium-dependent neutral amino acid transporter B(0)AT1 (555 words) [view diff] exact match in snippet view article

DN, Kowalczuk S, Rodgers H, et al. (2008). "Further evidence for allelic heterogeneity in Hartnup disorder". Hum. Mutat. 29 (10): 1217–1221. doi:10.1002/humu

IGHMBP2 (523 words) [view diff] exact match in snippet view article find links to article

Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6.

RPS6KA3 (1,380 words) [view diff] exact match in snippet view article find links to article

"Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations". American Journal of Human

Protoporphyrinogen oxidase (1,619 words) [view diff] exact match in snippet view article find links to article

identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation"

MAFB (gene) (1,476 words) [view diff] exact match in snippet view article

populations could reflect variable coverage by available markers or true allelic heterogeneity. In mouse models, Mafb mRNA and protein were detected in both craniofacial

Torsin A (910 words) [view diff] exact match in snippet view article find links to article

Tuffery-Giraud S, Cavalier L, Roubertie A, et al. (2002). "No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia"

SATB2 (1,665 words) [view diff] exact match in snippet view article find links to article

apparently causal genes have been found reflecting a high degree of allelic heterogeneity. Although most of these mutations are extremely rare and often show

Nephrin (1,352 words) [view diff] exact match in snippet view article find links to article

Hudson J, Morton DH, Chakravarti A (2000). "Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order

Jean-Louis Mandel (1,981 words) [view diff] exact match in snippet view article find links to article

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations. American Journal Of Human

FGF5 (2,251 words) [view diff] exact match in snippet view article find links to article

PMID 17767004. Dierks C, Mömke S, Philipp U, Distl O (August 2013). "Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs". Animal

CLEC16A (1,635 words) [view diff] exact match in snippet view article find links to article

of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus". Journal of Neuroimmunology. 211 (1–2): 105–9

Erythropoietic protoporphyria (2,753 words) [view diff] exact match in snippet view article find links to article

recessive and dominant patterns of inheritance and a high degree of allelic heterogeneity with incomplete penetrance. Most heterozygotes are asymptomatic

Angela Christiano (861 words) [view diff] exact match in snippet view article find links to article

Institutions Columbia University Thesis The human tropoelastin gene: Allelic heterogeneity, evolutionary divergence, identification of restriction fragment

Human disease modifier gene (4,334 words) [view diff] exact match in snippet view article find links to article

gene confirming theorized allelic heterogeneity. Importantly, phenotypic heterogeneity unexplained by allelic heterogeneity in the PAH gene was observed

Fibroblast growth factor receptor 2 (1,748 words) [view diff] exact match in snippet view article find links to article

"Novel FGFR2 mutations in Crouzon and Jackson–Weiss syndromes show allelic heterogeneity and phenotypic variability". Human Molecular Genetics. 4 (7): 1229–33

Roan (horse) (3,592 words) [view diff] case mismatch in snippet view article

B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, et al. (2007). "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses". PLOS Genet

KIT (gene) (4,118 words) [view diff] exact match in snippet view article

Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, et al. (November 2007). "Allelic heterogeneity at the equine KIT locus in dominant white (W) horses". PLOS Genetics

Sabino horse (5,050 words) [view diff] case mismatch in snippet view article find links to article

Brooks, SA; Schlumbaum, A; Azor, PJ; Bailey, E; et al. (2007). "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses". PLOS Genet

Dominant white (10,969 words) [view diff] exact match in snippet view article find links to article

ISBN 9781780643298. Haase B, Brooks SA, Schlumbaum A, et al. (November 2007). "Allelic heterogeneity at the equine KIT locus in dominant white (W) horses". PLOS Genetics

Cat coat genetics (6,286 words) [view diff] exact match in snippet view article find links to article

Bénédicte; Martignat, Lionel; Tiret, Laurent (15 September 2016). "Allelic heterogeneity of albinism in the domestic cat". Animal Genetics. 48 (1): 127–128

Cream gene (4,679 words) [view diff] case mismatch in snippet view article find links to article

Brooks, SA; Schlumbaum, A; Azor, PJ; Bailey, E; et al. (2007). "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses". PLOS Genet

Horse (14,942 words) [view diff] case mismatch in snippet view article find links to article

Retrieved 2008-05-01. Haase B; Brooks SA; Schlumbaum A; et al. (2007). "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses". PLOS Genetics

SKIV2L (3,218 words) [view diff] exact match in snippet view article find links to article

Meyer BF, Al-Mehaidib A (March 2015). "Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome". Journal of Pediatric Gastroenterology

DISC1 (4,723 words) [view diff] exact match in snippet view article find links to article

consistently associated with development of mental disorders, indicating allelic heterogeneity in psychiatric disease. The impact of variants in the DISC1 gene

Arabian horse (15,506 words) [view diff] case mismatch in snippet view article find links to article

B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, et al. (2007). "Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses". PLOS Genetics

Heritability of autism (10,800 words) [view diff] exact match in snippet view article find links to article

Prasad HC, McCauley JL, Han Q, Jiang L, et al. (August 2005). "Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility