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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...

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Detalles Bibliográficos
Autores principales:	Okamoto, Nana, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Komori, Takahide, Imoto, Issei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559424/ https://www.ncbi.nlm.nih.gov/pubmed/28819563 http://dx.doi.org/10.1038/hgv.2017.36

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