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Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

BACKGROUND: Osteonecrosis of the femoral head is a debilitating disease that involves impaired blood supply to the femoral head and leads to femoral head collapse. METHODS: We use whole-exome sequencing and Sanger sequencing to analyse a family with inherited osteonecrosis of the femoral head and fl...

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Detalles Bibliográficos
Autores principales:	Mah, Wayne, Sonkusare, Swapnil K, Wang, Tracy, Azeddine, Bouziane, Pupavac, Mihaela, Carrot-Zhang, Jian, Hong, Kwangseok, Majewski, Jacek, Harvey, Edward J, Russell, Laura, Chalk, Colin, Rosenblatt, David S, Nelson, Mark T, Séguin, Chantal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2016
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035228/ https://www.ncbi.nlm.nih.gov/pubmed/27330106 http://dx.doi.org/10.1136/jmedgenet-2016-103829

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