Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.

Authors :: Campos-Xavier AB
Casanova JL
Doumaz Y
Feingold J
Munnich A
Cormier-Daire V
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2005 Mar 01; Vol. 133A (2), pp. 216-8.
Publication Year :: 2005

Subjects :: Chromosomes, Human, Pair 16 genetics
DNA chemistry
DNA genetics
DNA Mutational Analysis
Family Health
Female
Genetic Variation
Genotype
Haplotypes
Humans
Male
Microsatellite Repeats
Mutation, Missense
Osteopetrosis pathology
Pedigree
Chloride Channels genetics
Mutation
Osteopetrosis genetics

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