Exome capture sequencing identifies a novel mutation in BBS4

Molecular Vision

Volumn 17, Issue , 2011, Pages 3529-3540

  Wang, Hui ^a   Chen, Xianfeng ^a   Dudinsky, Lynn ^c   Patenia, Claire ^a   Chen, Yiyun ^a   Li, Yumei ^a   Wei, Yue ^d   Abboud, Emad B ^e   Al Rajhi, Ali A ^e   Lewis, Richard Alan ^a   Lupski, James R ^a   Mardon, Graeme ^a,b   Gibbs, Richard A ^a   Perkins, Brian D ^c   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Baylor College of Medicine3   (United States)

^c TEXAS A AND M UNIVERSITY   (United States)

^d UNIVERSITY OF TEXAS   (United States)

^e KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BARDET BIEDL SYNDROME 4 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CELL POLARITY; CONSANGUINITY; CONTROLLED STUDY; ELECTRORETINOGRAM; EXOME; EXON; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETINA DYSTROPHY; RNA SYNTHESIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CONSANGUINITY; EXOME; EXONS; FEMALE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RETINA; RHODOPSIN; SAUDI ARABIA; ZEBRAFISH;

EID: 84862908344     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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