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A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis

Autosomal dominant osteopetrosis type II (ADO II), characterized by increased bone mass and density, is caused by mutations in the chloride channel 7 (CLCN7) gene. In this study, a novel missense variant in CLCN7 (c.1678A > G; p.Met560Val) was identified in three symptomatic subjects and one carr...

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Detalles Bibliográficos
Autores principales: Peng, Hui, He, Hong-Bo, Wen, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7701216/
https://www.ncbi.nlm.nih.gov/pubmed/33304905
http://dx.doi.org/10.3389/fcell.2020.599826