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Ansley, SJ
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
by
Katsanis, N
,
Beales, PL
,
Woods, MO
,
Lewis, RA
,
Green, JS
,
Parfrey, PS
,
Ansley
,
SJ
,
Davidson, WS
,
Lupski, JR
Published 2000
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Related Subjects
Alleles
Bardet-Biedl Syndrome
Base Sequence
Chromosome Mapping
Complementary
Consanguinity
DNA
DNA Mutational Analysis
Female
Frameshift Mutation
Gene Deletion
Genetic Linkage
Genotype
Group II Chaperonins
Haplotypes
Homozygote
Humans
Kidney
Male
Microsatellite Repeats
Molecular Chaperones
Molecular Sequence Data
Mutation
Obesity
Pedigree
Phenotype
Point Mutation
Retinal Diseases
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