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

doi:10.1136/jmedgenet-2016-103829

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

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Wayne Mah Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Swapnil K Sonkusare Department of Pharmacology, University of Vermont, Burlington, Vermont, USA Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA PubMed articles Google scholar articles
Tracy Wang Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Bouziane Azeddine Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Mihaela Pupavac Department of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articles Google scholar articles
Jian Carrot-Zhang Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University and Genome Québec Innovation Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Kwangseok Hong Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA PubMed articles Google scholar articles
Jacek Majewski Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University and Genome Québec Innovation Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Edward J Harvey Department of Surgery, Division of Orthopaedic Surgery, McGill University Health Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles
Laura Russell Department of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articles Google scholar articles
Colin Chalk Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada PubMed articles Google scholar articles
David S Rosenblatt Department of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articles Google scholar articles
Mark T Nelson Department of Pharmacology, University of Vermont, Burlington, Vermont, USA Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK PubMed articles Google scholar articles
Chantal Séguin Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada PubMed articles Google scholar articles

Correspondence to Dr Chantal Séguin, McGill University Health Centre, 1001 Décarie Blvd., D02-7519, Montreal, Quebec, Canada H4A 3J1; chantal.seguin2{at}mcgill.ca

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Mah W, Sonkusare SK, Wang T, et al

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

Journal of Medical Genetics 2016;53:705-709.

Publication history

Received February 8, 2016
Revised May 3, 2016
Accepted May 25, 2016
First published June 21, 2016.

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September 22, 2016

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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