Exploring the molecular basis of Bardet-Biedl syndrome

Human Molecular Genetics

Volumn 10, Issue 20, 2001, Pages 2293-2299

  Katsanis, Nicholas ^a   Lupski, James R ^a   Beales, Philip L ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHAPERONIN; LEUCINE ZIPPER PROTEIN;

BARDET BIEDL SYNDROME; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GONADAL DYSGENESIS; HUMAN; HYPOGONADISM; KIDNEY DISEASE; MALE; OBESITY; PATHOGENESIS; PHENOTYPE; PLEIOTROPY; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINA DEGENERATION; RETINA DYSTROPHY; REVIEW;

EID: 0035475115     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.20.2293     Document Type: Review

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