The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Nature Genetics

Volumn 11, Issue 2, 1995, Pages 219-222

  Clark, R F ^a   Hutton, M ^b   Fuldner, M ^c   Froelich, S ^d   Karran, E ^e   Talbot, C ^a   Crook, R ^b   Lendon, C ^a   Prihar, G ^b   He, C ^a   Korenblat, K ^a   Martinez, A ^a,f   Wragg, M ^a   Busfield, F ^a   Behrens, M I ^a   Myers, A ^a   Norton, J ^a   Morris, J ^a   Mehta, N ^b   Pearson, C ^b   Lincoln, S ^b   Baker, M ^b   Duff, K ^b   Zehr, C ^b   Perez Tur, J ^b   Houlden, H ^b,g,h   Ruiz, A ^f   Ossa, J ^f   Lopera, F ^f   Arcos, M ^f   Madrigal, L ^f   Collinge, J ^g,h   Humphreys, C ^g,h   Ashworth, A ^g,h   Sarner, S ^g,h   Fox, N ^g,h   Harvey, R ^g,h   Kennedy, A ^g,h   Roques, P ^g,h   Cline, R T ^c   Philips, C A ^c   Venter, J C ^c   Forsell, L ^d   Axelman, K ^d   Lilius, L ^d   Johnston, J ^d   Cowburn, R ^d   Viitanen, M ^d   Winblad, B ^d   Kosik, K ⁱ   Haltia, M ^j   Poyhonen, M ^k   Dickson, D ^l   Mann, D ^m   Neary, D ^m   Snowden, J ^m   Lantos, P ⁿ   Lannfelt, L ^d   Rossor, M ^g,h   Roberts, G W ^e   Adams, M D ^c   Hardy, J ^b   Goate, A ^a   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c J CRAIG VENTER INSTITUTE   (United States)

^d KAROLINSKA INSTITUTE   (Sweden)

^e GLAXOSMITHKLINE   (United Kingdom)

^f UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

ⁱ BRIGHAM AND WOMEN S HOSPITAL   (United States)

^j UNIVERSITY OF HELSINKI   (Finland)

^k OULU UNIVERSITY HOSPITAL   (Finland)

^l ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^m UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 14Q; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AGE FACTORS; AGE OF ONSET; ALTERNATIVE SPLICING; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DNA PRIMERS; EXONS; FAMILY; GENOMIC LIBRARY; HUMAN; INTRONS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0029115555     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1095-219     Document Type: Article

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