A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

Chinese Medical Journal

Volumn 127, Issue 24, 2014, Pages 4190-4196

  Li, Qian ^a   Zhang, Yong Peng ^a   Jia, Li Yun ^a   Peng, Xiao Yan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Bardet Biedl syndrome; BBS4 gene; Chinese; Nonsense mutation; Novel

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; BBS4 GENE; CASE REPORT; CHILD; CONTROLLED STUDY; EYE EXAMINATION; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; NONSENSE MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREDICTION; PRESCHOOL CHILD; RETINITIS PIGMENTOSA; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; STOP CODON;

BBS4 PROTEIN, HUMAN; PROTEIN; STOP CODON;

BARDET-BIEDL SYNDROME; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; HUMANS; PROTEINS;

EID: 84940105818     PISSN: 03666999     EISSN: 25425641     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.20141359     Document Type: Article

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