Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome-Reference-Cited by-同舟云学术

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Published:2012-09 Issue:3 Volume:91 Page:541-547
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Manzini M. Chiara,Tambunan Dimira E.,Hill R. Sean,Yu Tim W.,Maynard Thomas M.,Heinzen Erin L.,Shianna Kevin V.,Stevens Christine R.,Partlow Jennifer N.,Barry Brenda J.,Rodriguez Jacqueline,Gupta Vandana A.,Al-Qudah Abdel-Karim,Eyaid Wafaa M.,Friedman Jan M.,Salih Mustafa A.,Clark Robin,Moroni Isabella,Mora Marina,Beggs Alan H.,Gabriel Stacey B.,Walsh Christopher A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference29 articles.

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3. Dystroglycan: From biosynthesis to pathogenesis of human disease;Barresi;J. Cell Sci.,2006

4. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan;Roscioli;Nat. Genet.,2012

5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome;Willer;Nat. Genet.,2012

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