TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Vissers, Lisenka E. L. M.
A1  - Fano, Virginia
A1  - Martinelli, Diego
A1  - Campos-Xavier, Belinda
A1  - Barbuti, Domenico
A1  - Cho, Tae-Joon
A1  - Dursun, Ahmet
A1  - Kim, Ok Hwa
A1  - Lee, Sun Hee
A1  - Timpani, Giuseppina
A1  - Nishimura, Gen
A1  - Unger, Sheila
A1  - Sass, Jörn Oliver
A1  - Veltman, Joris A.
A1  - Brunner, Han G.
A1  - Bonafé, Luisa
A1  - Dionisi-Vici, Carlo
A1  - Superti-Furga, Andrea
T1  - Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
JF  - American Journal of Medical Genetics, Part A
Y1  - 2011
SN  - 1552-4825
SS  - 1552-4825
U6  - https://doi.org/10.1002/ajmg.a.34325
DO  - https://doi.org/10.1002/ajmg.a.34325
PM  - 22025298
VL  - 155
IS  - 11
SP  - 2609
EP  - 2616
PB  - Wiley
ER  -