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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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| Опубликовано в: : | Hum Genome Var |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2017
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| Предметы: | |
| Online-ссылка: | 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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