A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2

Archives of Neurology

Volumn 56, Issue 1, 1999, Pages 65-69

  Yasuda, Minoru ^a,b,f   Maeda, Kiyoshi ^a   Hashimoto, Mamoru ^a   Yamashita, Hikari ^a   Ikejiri, Yoshitaka ^a,c   Bird, Thomas D ^a,d   Tanaka, Chikako ^a   Schellenberg, Gerard D ^b,d,e  

^a Hyogo Inst Aging Brain Cogn D   (Japan)

^b Geriatric Research Education and Clinical Center   (United States)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f Hyogo Inst Aging Brain Cogn D   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; LYSINE; PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ARTICLE; CODON; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC RISK; HUMAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; CODON; CONSERVED SEQUENCE; GENOTYPE; HUMANS; JAPAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRESENILIN-1; PRESENILIN-2;

EID: 0032957648     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.56.1.65     Document Type: Article

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