Article
Next-generation sequencing for disorders of low and high bone mineral density.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Aug 2013
Sule G, Campeau P M, Zhang V W, Nagamani S C S, Dawson B C, Grover M, Bacino C A, Sutton V R, Brunetti-Pierri N, Lu J T, Lemire E, Gibbs R A, Cohn D H, Cui H, Wong L-J, Lee B H
Abstract excerpt
UNLABELLED: To achieve an efficient molecular diagnosis of osteogenesis imperfecta (OI), Ehlers-Danlos syndrome (EDS), and osteopetrosis (OPT), we designed a next-generation sequencing (NGS) platform to sequence 34 genes. We validated this platform on known cases and have successfully identified the causative mutation in most patients without a prior molecular diagnosis. INTRODUCTION: Osteogenesis imperfecta,...
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