Syndrome de bardet-biedl une famille unique pour un gène majeur (bbs10)

Medecine/Sciences

Volumn 22, Issue 11, 2006, Pages 901-904

  Dollfus, Hélène ^a   Stoetzel, Corinne ^a   Laurier, Virginie ^a   Muller, Jean ^b,c   Poch, Olivier ^b   Bonneau, Dominique ^d   Mégarbané, André ^e   Mandel, Jean Louis ^b,f,g  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c LUXEMBOURG INSTITUTE OF HEALTH   (Luxembourg)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f UNIVERSITÉ DE STRASBOURG   (France)

^g Centre de Recherche Interdisciplinaire en Biologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BBS10 PROTEIN, HUMAN; CHAPERONIN;

ARTICLE; BARDET BIEDL SYNDROME; FAMILY; FEMALE; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE;

BARDET-BIEDL SYNDROME; CHAPERONINS; FAMILY; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 39049185585     PISSN: 07670974     EISSN: 19585381     Source Type: Journal    
DOI: 10.1051/medsci/20062211901     Document Type: Article

References (10)

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9. Laurier V, Stoetzel C, Muller J, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 2006 (sous presse).
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