A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

JAMA

Volumn 286, Issue 18, 2001, Pages 2257-2263

  Athan, Eleni S ^a   Williamson, Jennifer ^a,b   Ciappa, Alejandra ^a   Santana, Vincent ^a,b   Romas, Stavra N ^a,b   Lee, Joseph H ^a,b,c   Rondon, Haydee ^e   Lantigua, Rafael A ^a   Medrano, Martin ^d   Torres, Mayobanex ^e   Arawaka, Shigeki ^f,g   Rogaeva, Ekaterina ^f,g   Song, You Qiang ^f,g   Sato, Christine ^f,g   Kawarai, Toshitaka ^f,g   Fafel, Kimberley C ^h   Boss, Michael A ^h   Seltzer, William K ^h   Stern, Yaakov ^a,b   St George Hyslop, Peter ^f,g   Tycko, Benjamin ^a   Mayeux, Richard ^a,b,c   more..

^a New York Presbyterian Columbia University Medical Center   (United States)

^b Vagelos College of Physicians and Surgeons   (United States)

^c Department of Medicine   (United States)

^d UNIVERSIDAD TECNOLÓGICA DE SANTIAGO   (Dominican Republic)

^e Hospital General de la Plaza de la Salud   (Dominican Republic)

^f UNIVERSITY OF TORONTO   (Canada)

^g UNIVERSITY HEALTH NETWORK   (Canada)

^h ATHENA DIAGNOSTICS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; AMYLOID PRECURSOR PROTEIN; CYTOSINE; GLYCINE; GUANINE; MICROSATELLITE DNA; PRESENILIN 1;

ADULT; ALLELE; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ARTICLE; CODON; DATA BASE; DOMINICAN REPUBLIC; ETHNIC GROUP; EXON; FAMILY; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNITED STATES;

EID: 0035860986     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.286.18.2257     Document Type: Article

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