Article
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
Journal of medical genetics - 1 Oct 2016
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
Abstract excerpt
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 fluorescent Ca(2+) imaging to functionally characterise the variant protein. RESULTS: We report a family with four...
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