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searching for Trinucleotide repeat expansion 7 found (22 total)

alternate case: trinucleotide repeat expansion

ATXN8OS (746 words) [view diff] exact match in snippet view article find links to article

to be protein coding. A cytidine, thymidine, guanosine (CTG) trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript
Mild androgen insensitivity syndrome (3,918 words) [view diff] exact match in snippet view article find links to article
mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion. SBMA results when the length of the polyglutamine tract exceeds
Stephen Warren (geneticist) (1,376 words) [view diff] exact match in snippet view article
cloning of this locus also uncovered, for the first time, a trinucleotide repeat expansion mutation, a mechanism now known to be responsible for dozens
Myotonin-protein kinase (2,426 words) [view diff] no match in snippet view article find links to article
untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy
Huntingtin (3,189 words) [view diff] exact match in snippet view article find links to article
The key sequence which is found in Huntington's disease is a trinucleotide repeat expansion of glutamine residues beginning at the 18th amino acid. In unaffected
Ying-Hui Fu (2,201 words) [view diff] exact match in snippet view article find links to article
genetic anticipation in Myotonic dystrophy is also caused by trinucleotide repeat expansion on patient DNA. This mutational mechanism is now known to cause
Androgen insensitivity syndrome (12,659 words) [view diff] exact match in snippet view article find links to article
even the mutant AR protein itself can result in pathology. The trinucleotide repeat expansion of the polyglutamine tract of the AR gene that is associated