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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Detalhes bibliográficos
Publicado no:Endocrinol Metab (Seoul)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Korean Endocrine Society 2018
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6145957/
https://ncbi.nlm.nih.gov/pubmed/30229577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3803/EnM.2018.33.3.380
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