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CLCN7 wt Allele

Known as: Chloride Channel, Voltage-Sensitive 7 wt Allele, PPP1R63, OPTB4 
Human CLCN7 wild-type allele is located in the vicinity of 16p13 and is approximately 31 kb in length. This allele, which encodes H(+)/Cl(-) exchange… Expand
National Institutes of Health

Papers overview

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2016
2016
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome… Expand
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2015
2015
ADO2 is a heritable osteosclerotic disorder that usually results from heterozygous missense dominant negative mutations in the… Expand
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2015
2015
SummaryOsteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride… Expand
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Review
2015
Review
2015
The CLC family of chloride channels and transporters is composed by nine members, but only three of them, ClC-Ka/b, ClC-7 and ClC… Expand
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2014
2014
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective… Expand
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2013
2013
IntroductionOsteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or… Expand
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2009
2009
Here we report the identification of two different mutations in chloride channel 7 gene in two unrelated patients with autosomal… Expand
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2008
2008
INTRODUCTION Mutations in the chloride channel 7 gene (CLCN7) cause osteopetrosis, and polymorphisms of CLCN7 in the non-disease… Expand
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Highly Cited
2007
Highly Cited
2007
CONTEXT Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride… Expand
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2002
2002
Abstract. Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an… Expand
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