Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 985-988

  Sherrington, R ^a,j   Froelich, S ^b   Sorbi, S ^c   Campion, D ^d   Chi, H ^a,j   Rogaeva, E A ^a,j   Levesque, G ^a,j   Rogaev, E I ^a,j   Lin, C ^a,j   Liang, Y ^a,j   Ikeda, M ^a,j   Mar, L ^e   Brice, A ^f   Agid, Y ^f   Percy, M E ^g   Clerget Darpoux, F ^h   Piacentini, S ^c   Marcon, G ⁱ   Nacmias, B ^c   Amaducci, L ^c   Frebourg, T ^d   Lannfelt, L ^b   Rommens, J M ^e   St George Hyslop, P H ^a,j   more..

^a UNIVERSITY OF TORONTO   (Canada)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF FLORENCE   (Italy)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF TORONTO   (Canada)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g UNIVERSITY OF TORONTO   (Canada)

^h INSERM   (France)

ⁱ UNIVERSITY OF UDINE   (Italy)

^j UNIVERSITY HEALTH NETWORK   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PRECURSOR;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 1; GENE SEGREGATION; GENOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; PEDIGREE; PENETRANCE; PRIORITY JOURNAL;

AGE OF ONSET; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; APOLIPOPROTEINS E; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PRESENILIN-2;

EID: 8944241774     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.985     Document Type: Article

References (17)

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