Carrier testing for spinal muscular atrophy

Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer standards of care as to whether or not carrie...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Gitlin, Jonathan M., Fischbeck, Kenneth, Crawford, Thomas O., Cwik, Valerie, Fleischman, Alan, Gonye, Karla, Heine, Deborah, Hobby, Kenneth, Kaufmann, Petra, Keiles, Steven, MacKenzie, Alex, Musci, Thomas, Prior, Thomas, Lloyd-Puryear, Michele, Sugarman, Elaine A., Terry, Sharon F., Urv, Tiina, Wang, Ching, Watson, Michael, Yaron, Yuval, Frosst, Phyllis, Howell, R. Rodney
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277882/
https://ncbi.nlm.nih.gov/pubmed/20808230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e3181ef6079
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