Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Nature Genetics

Volumn 18, Issue 2, 1998, Pages 164-167

  Brais, Bernard ^a   Bouchard, Jean Pierre ^b   Xie, Ya Gang ^a   Rochefort, Daniel L ^a   Chrétien, Nathalie ^a   Tomé, Fernando M S ^c   Lafrenière, Ronald G ^a   Rommens, Johanna M ^d   Uyama, Eichiro ^e   Nohira, Osamu ^f   Blumen, Segiu ^g   Korcyn, Amos D ^h   Heutink, Peter ⁱ   Mathieu, Jean ^j   Duranceau, André ^k   Codère, François ^l   Fardeau, Michel ^c   Rouleau, Guy A ^a  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e KUMAMOTO UNIVERSITY   (Japan)

^f SHIZUOKA RED CROSS HOSPITAL   (Japan)

^g HILLEL YAFFE MEDICAL CENTER   (Israel)

^h TEL AVIV UNIVERSITY   (Israel)

ⁱ ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^j CHICOUTIMI HOSPITAL   (Canada)

^k UNIVERSITÉ DE MONTRÉAL   (Canada)

^l ROYAL VICTORIA HOSPITAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE MUTATION; GENE SEQUENCE; MOLECULAR CLONING; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGED; BASE SEQUENCE; CANADA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CLONING, MOLECULAR; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; PEDIGREE; POLY(A)-BINDING PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 17344371397     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0298-164     Document Type: Article

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