Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We r...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Okamoto, Nana, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Komori, Takahide, Imoto, Issei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5559424/
https://ncbi.nlm.nih.gov/pubmed/28819563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.36
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