Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Campos-Xavier
Ana Belinda
AB
Casanova
Jean-Laurent
JL
Doumaz
Yves
Y
Feingold
Josué
J
Munnich
Arnold
A
Cormier-Daire
Valérie
V
D018118:Chloride Channels / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D020125:Mutation, Missense; D010022:Osteopetrosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
C097540:CLCN7 protein, human; D018118:Chloride Channels; D004247:DNA