Expansion of a 27 CAG repeat allele into a symptomatic huntington disease-producing allele.
Kelly
T E
TE
Allinson
P
P
McGlennen
R C
RC
Baker
J
J
Bao
Y
Y
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005192:Family Health; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins