novel mutation

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
Wayne Mah, Swapnil K Sonkusare, Tracy Wang, Bouziane Azeddine, Mihaela Pupavac, Jian Carrot-Zhang, Kwangseok Hong, Jacek Majewski, Edward J Harvey, Laura Russell, Colin Chalk, David S Rosenblatt, Mark T Nelson, Chantal Séguin

Journal of Medical Genetics Oct 2016, 53 (10) 705-709; DOI: 10.1136/jmedgenet-2016-103829

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novel mutation