Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

American Journal of Human Genetics

Volumn 72, Issue 5, 2003, Pages 1187-1199

  Beales, Philip L ^a   Badano, Jose L ^c   Ross, Alison J ^a   Ansley, Stephen J ^c   Hoskins, Bethan E ^a   Kirsten, Brigitta ^b   Mein, Charles A ^b   Froguel, Philippe ^b,e   Scambler, Peter J ^a   Lewis, Richard Alan ^f   Lupski, James R ^f   Katsanis, Nicholas ^c,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e INSTITUT PASTEUR DE LILLE   (France)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN BBS; PROTEIN BBS1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE TRANSMISSION; FAMILY; GENE; GENE BBS1; GENE BBS2; GENE BBS4; GENE BBS6; GENE BBS7; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC TRAIT; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OLIGOGENIC INHERITANCE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN INTERACTION; SEGREGATION ANALYSIS; STATISTICAL ANALYSIS; TRIALLELIC INHERITANCE;

EID: 0038744241     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375178     Document Type: Article

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