Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantify the SMN1 copy number (CN) is recommended by th...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200598/
https://ncbi.nlm.nih.gov/pubmed/32066871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0754-0
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