Molecular analysis of Bardet-Biedl syndrome families: Report of 21 novel mutations in 10 genes

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 8, 2011, Pages 5317-5324

  Chen, Jianjun ^a   Smaoui, Nizar ^a   Hammer, Monia Ben Hamed ^a   Jiao, Xiaodong ^a   Amer Riazuddin, S ^b,c   Harper, Shyana ^d   Katsanis, Nicholas ^e   Riazuddin, Sheikh ^b,f   Chaabouni, Habiba ^g   Berson, Eliot L ^d   Fielding Hejtmancik, J ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ALLAMA IQBAL MEDICAL COLLEGE   (Pakistan)

^g CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SPLICING DEFECT; ASIAN; CAUCASIAN; ETHNIC GROUP; GENE FREQUENCY; GENETICS; MUTATION; NEGRO; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

PROTEIN;

AFRICAN CONTINENTAL ANCESTRY GROUP; ASIAN CONTINENTAL ANCESTRY GROUP; BARDET-BIEDL SYNDROME; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENE FREQUENCY; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 80052941208     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7554     Document Type: Article

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