Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ∼1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier scr...

Descripción completa

Detalles Bibliográficos
Autores principales: Sugarman, Elaine A, Nagan, Narasimhan, Zhu, Hui, Akmaev, Viatcheslav R, Zhou, Zhaoqing, Rohlfs, Elizabeth M, Flynn, Kerry, Hendrickson, Brant C, Scholl, Thomas, Sirko-Osadsa, Deborah Alexa, Allitto, Bernice A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234503/
https://www.ncbi.nlm.nih.gov/pubmed/21811307
http://dx.doi.org/10.1038/ejhg.2011.134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234503/
https://www.ncbi.nlm.nih.gov/pubmed/21811307
http://dx.doi.org/10.1038/ejhg.2011.134

Ejemplares similares