Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger, Jörn Oliver Sass, Joris A. Veltman, Han G. Brunner, Luisa Bonafé, Carlo Dionisi-Vici, Andrea Superti-Furga

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Medicine & Life Sciences