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Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1

BACKGROUND: Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the sarcomere have been implicated in other types of distal arthrogryposis. Cost-effective sequencing methods are now available to examine all genes in the human genome for the pur...

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Detalhes bibliográficos
Main Authors: Alvarado, David M., Buchan, Jillian G., Gurnett, Christina A., Dobbs, Matthew B.
Formato: Artigo
Idioma:Inglês
Publicado em: Journal of Bone and Joint Surgery, Inc. 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3102311/
https://ncbi.nlm.nih.gov/pubmed/21531865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2106/JBJS.J.02004
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