Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Beidl patients with two mutations at a second BBS locus

Human Molecular Genetics

Volumn 12, Issue 14, 2003, Pages 1651-1659

  Bandano, Jose L ^a   Kim, Jun Chul ^b   Hoskins, Bethan E ^c   Lewis, Richard Alan ^d   Ansley, Stephen J ^a   Cutler, David J ^a   Castellan, Claudio ^e   Beales, Philip L ^c   Leroux, Michel R ^b   Katsanis, Nicholas ^a,e,f  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b SIMON FRASER UNIVERSITY   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e CENTRAL HOSPITAL OF BOLZANO   (Italy)

^f JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONIN; GENE PRODUCT; PROTEIN BBS1; PROTEIN BBS2; PROTEIN BBS6; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BARDET BIEDL SYNDROME; CONTROLLED STUDY; FAMILY; FEMALE; GENE INTERACTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC EPISTASIS; GENETIC HETEROGENEITY; GENETIC MODEL; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN GENOME; MALE; MAMMAL CELL; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RECESSIVE INHERITANCE; SCHOOL CHILD; WILD TYPE;

BARDET-BIEDL SYNDROME; EPISTASIS, GENETIC; FEMALE; HUMANS; MALE; MOLECULAR CHAPERONES; MUTATION; PEDIGREE; PROTEINS;

MAMMALIA;

EID: 0041308085     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg188     Document Type: Article

References (31)

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