Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ; Human Molecular Genetics, 2012, vol. 21, issue 19, p 4151, ISSN 14602083. ISBN 14602083.

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