Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the bbsome subunit BBIP1 (BBS18)

Journal of Medical Genetics

Volumn 51, Issue 2, 2014, Pages 132-136

  Scheidecker, Sophie ^a   Etard, Christelle ^b   Pierce, Nathan W ^c   Geoffroy, Véronique ^a   Schaefer, Elise ^a,d   Muller, Jean ^a,d   Chennen, Kirsley ^a   Flori, Elisabeth ^d   Pelletier, Valérie ^d   Poch, Olivier ^a   Marion, Vincent ^a   Stoetzel, Corinne ^a   Strähle, Uwe ^b   Nachury, Maxence V ^c   Dollfus, Hélène ^a,d  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b KARLSRUHE INSTITUTE OF TECHNOLOGY   (Germany)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; DIAGNOSTICS TESTS; GENETIC SCREENING/COUNSELLING; MOLECULAR GENETICS; OPHTHALMOLOGY;

ANIMALS; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CARRIER PROTEINS; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE ANNOTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; ZEBRAFISH;

EID: 84894030800     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101785     Document Type: Article

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