A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Nature Genetics

Volumn 29, Issue 4, 2001, Pages 377-378

  Holmes, Susan E ^a   O’hearn, Elizabeth ^b,c   Rosenblatt, Adam ^a   Callahan, Colleen ^a   Hwang, Hyon S ^a   Ingersoll Ashworth, Roxann G ^d   Fleisher, Adam ^c   Stevanin, Giovanni ^e   Brice, Alexis ^e   Potter, Nicholas T ^f   Ross, Christopher A ^a,d   Margolis, Russell L ^a,d  

^a Departments of Psychiatry   (United States)

^b Departments of Neurology and Psychiatry   (United States)

^c Departments of Neuroscience   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY OF TENNESSEE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; JUNCTOPHILIN 3; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; GENE MAPPING; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION;

BASE SEQUENCE; CLONING, MOLECULAR; FEMALE; HUMANS; HUNTINGTON DISEASE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; TRINUCLEOTIDE REPEATS;

EID: 18344379670     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng760     Document Type: Article

References (10)