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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-g...

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Detalles Bibliográficos
Autores principales:	Kim, Seon Young, Lee, Younghak, Kang, Yea Eun, Kim, Ji Min, Joung, Kyong Hye, Lee, Ju Hee, Kim, Koon Soon, Kim, Hyun Jin, Ku, Bon Jeong, Shong, Minho, Yi, Hyon-Seung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Endocrine Society 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145957/ https://www.ncbi.nlm.nih.gov/pubmed/30229577 http://dx.doi.org/10.3803/EnM.2018.33.3.380

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