Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ∼50% of cases are caused by mutations in genes that encode contractile proteins of skeletal myofibers. DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is c...

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Main Authors: McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Earl, Dawn L., Jagadeesh, Sujatha, Mehta, Sarju G., Robertson, Stephen P., Swanson, James M., Faustman, Elaine M., Mefford, Heather C., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2013
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542461/
https://ncbi.nlm.nih.gov/pubmed/23261301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.014
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