Functional modelling of a novel mutation in BBS5

Cilia

Volumn 3, Issue 1, 2014, Pages

  Al Hamed, Mohamed H ^a,b   van Lennep, Charles ^a   Hynes, Ann M ^a   Chrystal, Paul ^a   Eley, Lorraine ^a   Al Fadhly, Fatimah ^c   El Sayed, Riham ^d   Simms, Roslyn J ^a   Meyer, Brian ^b   Sayer, John A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c Maternity and Children's Hospital   (Saudi Arabia)

^d CAIRO UNIVERSITY   (Egypt)

Author keywords

BBS; Cilia; Pronephros; Retinopathy; Situs inversus; Zebrafish

Indexed keywords

MORPHOLINO OLIGONUCLEOTIDE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; BBS5 GENE; CELL CULTURE; CELLULAR DISTRIBUTION; CILIOPATHY; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASES; EUKARYOTIC FLAGELLUM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENETIC MODEL; HEART DILATATION; HOMOZYGOSITY; KIDNEY MALFORMATION; MALE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PRONEPHROS; RETINA DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSGENIC ZEBRAFISH;

EID: 84906329785     PISSN: None     EISSN: 20462530     Source Type: Journal    
DOI: 10.1186/2046-2530-3-3     Document Type: Article

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