相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The neXtProt knowledgebase on human proteins: 2017 update
Pascale Gaudet et al.
NUCLEIC ACIDS RESEARCH (2017)
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
Nana Okamoto et al.
HUMAN GENOME VARIATION (2017)
CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals
Florian Barvencik et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations
Alessandra Pangrazio et al.
HUMAN MUTATION (2010)
Osteopetrosis
Zornitza Stark et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
A Frattini et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)