De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.
From the Center for Medical Genetics and Molecular Medicine (G.H., O.B.), Haukeland University Hospital, Bergen; Section for Medical Genetics (I.B.), Department of Pathology, St. Olavs Hospital, Trondheim, Norway; Centre for Molecular Medicine and Therapeutics (M.R.H., A.S.), Vancouver; and University of British Columbia (M.R.H., A.S.), Vancouver, Canada.
Gunnar
G
Houge
Ove
O
Bruland
Inga
I
Bjørnevoll
Michael R
MR
Hayden
Alicia
A
Semaka
D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012306:Risk