CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
Sign Up to like & getrecommendations! Published in 2022 at "Bone"
DOI: 10.2139/ssrn.4207532
Abstract: After the discovery of abundant v-ATPase complexes in the osteoclast ruffled membrane it was obvious that in parallel a negative counter-ion needs to be transported across this membrane to allow for efficient transport of protons… read more here.
Keywords: clcn7; osteopetrosis; clc; autosomal dominant ... See more keywords
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Sign Up to like & getrecommendations! Published in 2018 at "Endocrinology and Metabolism"
DOI: 10.3803/enm.2018.33.3.380
Abstract: Background Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of… read more here.
Keywords: dominant osteopetrosis; autosomal dominant; clcn7; type autosomal ... See more keywords