Associated Papers
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016
Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.
Morovvati S et al.
International Journal of Molecular and Cellular Medicine, 2012
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
Besbas N et al.
European Journal of Pediatrics, 2009
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Campos-Xavier AB et al.
American Journal of Medical Genetics. Part A, 2005
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
Campos-Xavier AB et al.
Human Genetics, 2003
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