Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 67-70

  Katsanis, Nicholas ^a   Beales, Philip L ^a,d   Woods, Michael O ^b,c   Lewis, Richard A ^a   Green, Jane S ^b   Parfrey, Patrick S ^b   Ansley, Stephen J ^a   Davidson, William S ^b,c   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^c SIMON FRASER UNIVERSITY   (Canada)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BEHAVIOR DISORDER; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPOGONADISM; KIDNEY MALFORMATION; LEARNING DISORDER; MCKUSICK KAUFMAN SYNDROME; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN TARGETING; RETINA DYSTROPHY;

ALLELES; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENOTYPE; HAPLOTYPES; HOMOZYGOTE; HUMANS; KIDNEY; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; OBESITY; PEDIGREE; PHENOTYPE; POINT MUTATION; RETINAL DISEASES;

EID: 0033822064     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79201     Document Type: Article

References (17)

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