Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Faivre, L; Collod-Beroud, G; Callewaert, B; Child, A; Binquet, C; Gautier, E; Loeys, B L; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Stheneur, C; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Wolf, J E; Bouchot, O; Khau-Van-Kien, P; Beroud, C; Claustres, M; Bonithon-Kopp, C; Robinson, P N; Adès, L; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Jondeau, G; Boileau, C

Faivre, L; Collod-Beroud, G; Callewaert, B; Child, A; Binquet, C; Gautier, E; Loeys, B L; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Stheneur, C; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Wolf, J E; Bouchot, O; Khau-Van-Kien, P; Beroud, C; Claustres, M; Bonithon-Kopp, C; Robinson, P N; Adès, L; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Jondeau, G; Boileau, C.

Affiliation

Faivre L; Centre de Génétique, CHU, Dijon, France. laurence.faivre@chu-dijon.fr

Eur J Hum Genet ; 17(4): 491-501, 2009 Apr.

Article in En | MEDLINE | ID: mdl-19002209

Subject(s)

Exons/genetics; Microfilament Proteins/genetics; Mutation; Codon, Nonsense; DNA Mutational Analysis; Ectopia Lentis/genetics; Fibrillin-1; Fibrillins; Humans; Marfan Syndrome/genetics; Microfilament Proteins/metabolism; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Microfilament Proteins / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: France

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