Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease

NeuroReport

Volumn 9, Issue 14, 1998, Pages 3335-3339

  Taddei, Kevin ^a   Kwok, John B J ^b   Kril, Jillian J ^c   Halliday, Glenda M ^d   Creasey, Helen ^c   Hallupp, Marianne ^b   Fisher, Christopher ^a   Brooks, William S ^c   Chung, Christopher ^e   Andrews, Colin ^f   Masters, Colin L ^g   Schofield, Peter R ^b   Martins, Ralph N ^a  

^a HOLLYWOOD PRIVATE HOSPITAL   (Australia)

^b GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^e Joondalup Health Campus ^*  (Australia)

^f WODEN VALLEY HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Early onset Alzheimer's disease; Missense mutation; Presenilin genes

Indexed keywords

PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; AUTORADIOGRAPHY; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; EXON; FEMALE; GENETIC SUSCEPTIBILITY; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; PEDIGREE ANALYSIS; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SENILE PLAQUE;

EID: 7844246535     PISSN: 09594965     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001756-199810050-00034     Document Type: Article

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