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Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W)...
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| Publicado en: | Mol Pain |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
SAGE Publications
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4955969/ https://ncbi.nlm.nih.gov/pubmed/27325559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1744806916652628 |
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