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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W; Geoffroy, Véronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valérie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Strähle, Uwe; Nachury, Maxence V; Dollfus, Hélène.
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  • Scheidecker S; Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
J Med Genet ; 51(2): 132-6, 2014 Feb.
Article in En | MEDLINE | ID: mdl-24026985
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Codon, Nonsense / Bardet-Biedl Syndrome / Exome Type of study: Prognostic_studies Limits: Animals / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2014 Document type: Article Affiliation country: France Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Codon, Nonsense / Bardet-Biedl Syndrome / Exome Type of study: Prognostic_studies Limits: Animals / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2014 Document type: Article Affiliation country: France Country of publication: United kingdom