The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients

Annals of Neurology

Volumn 40, Issue 6, 1996, Pages 912-917

  Ikeda, Masaki ^a,b,f   Sharma, Vikram ^c,d   Sumi, S Mark ^c   Rogaeva, Ekaterina A ^a,b   Poorkaj, Parvoneh ^c,d   Sherrington, Robin ^a,b   Nee, Linda ^e   Tsuda, Takehide ^g   Oda, Nobuhito ^h   Watanabe, Mitsunori ^f   Aoki, Masashi ^g   Shoji, Mikio ^f   Abe, Koji ^g   Itoyama, Yasuto ^g   Hirai, Shunsaku ^f   Schellenberg, Gerard D ^c,d   Bird, Thomas D ^c,d   St George Hyslop, P H ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c UNIVERSITY OF WASHINGTON   (United States)

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

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^f GUNMA UNIVERSITY   (Japan)

^g TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h Ishii Hosp Neurosurg Ophthalmol   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOSINE; GENE PRODUCT; MEMBRANE PROTEIN; THYMINE; VALINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CELL INCLUSION; CELL LOSS; CLINICAL ARTICLE; DENTATE GYRUS; FAMILIAL DISEASE; FEMALE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; JAPAN; MALE; MISSENSE MUTATION; NEUROFIBRILLARY TANGLE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SENILE PLAQUE;

ADULT; ALZHEIMER DISEASE; BASE SEQUENCE; BRAIN; FEMALE; HIPPOCAMPUS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBRILLARY TANGLES; PEDIGREE; PHENOTYPE; PRESENILIN-1;

EID: 8044251536     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400614     Document Type: Article

References (16)

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