Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7

Type II autosomal dominant osteopetrosis (ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoc...

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Detalles Bibliográficos
Autores principales: Chen, Xiang, Zhang, Kun, Hock, Janet, Wang, Chunyu, Yu, Xijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126728/
https://www.ncbi.nlm.nih.gov/pubmed/27990310
http://dx.doi.org/10.1038/boneres.2016.35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126728/
https://www.ncbi.nlm.nih.gov/pubmed/27990310
http://dx.doi.org/10.1038/boneres.2016.35

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