Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome-Reference-Cited by-同舟云学术

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Published:2013-01-28 Issue:9 Volume:22 Page:1746-1754
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Buysse Karen,Riemersma Moniek,Powell Gareth,van Reeuwijk Jeroen,Chitayat David,Roscioli Tony,Kamsteeg Erik-Jan,van den Elzen Christa,van Beusekom Ellen,Blaser Susan,Babul-Hirji Riyana,Halliday William,Wright Gavin J.,Stemple Derek L.,Lin Yung-Yao,Lefeber Dirk J.,van Bokhoven Hans

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/22/9/1746/14140955/ddt021.pdf

Reference38 articles.

1. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies;Michele;Nature,2002

2. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy;Moore;Nature,2002

3. Glyc-O-genetics of Walker–Warburg syndrome;van Reeuwijk;Clin. Genet.,2005

4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan;Brockington;Am. J. Hum. Genet.,2001

5. Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton;Henry;Curr. Opin. Cell Biol.,1996

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