Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype

NeuroReport

Volumn 8, Issue 6, 1997, Pages 1537-1542

  Kwok, John B J ^a   Taddei, Kevin ^b   Hallupp, Marianne ^a   Fisher, Christopher ^b   Brooks, William S ^c   Broe, Gerald A ^c   Hardy, John ^d   Fulham, Michael J ^e   Nicholson, Garth A ^c   Stell, Rick ^f   St George Hyslop, Peter H ^g,h   Fraser, Paul E ^g,h   Kakulas, Byron ^f   Clarnette, Roger ⁱ   Relkin, Norman ^j   Gandy, Samuel E ^j   Schofield, Peter R ^a   Martins, Ralph N ^b  

^a GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF SOUTH FLORIDA   (United States)

^e ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^f PATHWEST LABORATORY MEDICINE   (Australia)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY HEALTH NETWORK   (Canada)

ⁱ Osborne Park Hospital   (Australia)

^j WEILL CORNELL MEDICAL COLLEGE   (United States)

more..

Author keywords

Alzheimer's disease; Missense mutation; Presenilin genes; Sequence analysis

Indexed keywords

AMYLOID PRECURSOR PROTEIN;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DNA POLYMORPHISM; DNA TEMPLATE; EXON; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; ONSET AGE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 8244260610     PISSN: 09594965     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001756-199704140-00043     Document Type: Article

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