Mutation Update for UBE3A Variants in Angelman Syndrome-Reference-Cited by-同舟云学术

Mutation Update for UBE3A Variants in Angelman Syndrome

Published:2014-11-24 Issue:12 Volume:35 Page:1407-1417
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sadikovic Bekim¹,Fernandes Priscilla²,Zhang Victor Wei³,Ward Patricia A.³,Miloslavskaya Irene³,Rhead William⁴,Rosenbaum Richard⁵,Gin Robert⁵,Roa Benjamin²,Fang Ping³

Affiliation:

1. Department of Pathology and Molecular Medicine; McMaster University; Hamilton Ontario Canada

2. Myriad Genetics; Salt Lake City Utah

3. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

4. Medical College of Milwaukee; Pediatrics and Pathology Milwaukee; Milwaukee Wisconsin

5. Littleton Pediatric Medical Center; Highlands Ranch Colorado

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference68 articles.

1. A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree;Abaied;Am J Med Genet A,2010

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Angelman syndrome due to a termination codon mutation of the UBE3A gene;Al-Maawali;J Child Neurol,2013

4. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons;Albrecht;Nat Genet,1997

5. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999

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