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

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

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2609-2616 [Periódico revisado por pares]

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