Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing-Reference-Cited by-同舟云学术

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Published:2012-04-05 Issue:19 Volume:21 Page:4151-4161
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Timal Sharita,Hoischen Alexander,Lehle Ludwig,Adamowicz Maciej,Huijben Karin,Sykut-Cegielska Jolanta,Paprocka Justyna,Jamroz Ewa,van Spronsen Francjan J.,Körner Christian,Gilissen Christian,Rodenburg Richard J.,Eidhof Ilse,Van den Heuvel Lambert,Thiel Christian,Wevers Ron A.,Morava Eva,Veltman Joris,Lefeber Dirk J.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/19/4151/17256028/dds123.pdf

Reference38 articles.

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2. The expanding horizons of asparagine-linked glycosylation;Larkin;Biochemistry,2011

3. How to find and diagnose a CDG due to defective N-glycosylation;Lefeber;J. Inherit. Metab. Dis.,2011

4. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies;Lefeber;Am. J. Hum. Genet.,2009

5. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides;Haeuptle;Hum. Mutat.,2009

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