BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Human Mutation

Volumn 30, Issue 7, 2009, Pages

  Bin, Jenea ^a   Madhavan, Jagadeesan ^a   Ferrini, Walter ^a   Mok, Calvin A ^a   Billingsley, Gail ^a   Héon, Elise ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Bardet Biedl syndrome; BBS7; Blindness; Mutation; Sequencing; TTC8

Indexed keywords

CHAPERONE; PROTEIN BBS7; PROTEIN BBS8; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; SCHOOL CHILD;

BARDET-BIEDL SYNDROME; CANADA; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; THIOREDOXINS;

EID: 67649641820     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21040     Document Type: Article

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