Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease-Reference-Cited by-同舟云学术

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Published:2011-08 Issue:2 Volume:89 Page:308-312
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Weedon Michael N.,Hastings Robert,Caswell Richard,Xie Weijia,Paszkiewicz Konrad,Antoniadi Thalia,Williams Maggie,King Cath,Greenhalgh Lynn,Newbury-Ecob Ruth,Ellard Sian

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Update on Charcot-Marie-Tooth disease;Patzkó;Curr. Neurol. Neurosci. Rep.,2011

2. The Sequence Alignment/Map format and SAMtools;Li;Bioinformatics,2009

3. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data;Wang;Nucleic Acids Res.,2010

4. Cytoplasmic dynein could be key to understanding neurodegeneration;Banks;Genome Biol.,2008

5. Mutations in dynein link motor neuron degeneration to defects in retrograde transport;Hafezparast;Science,2003

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