SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Lopez‐Lopez, Daniel, Loucera, Carlos, Carmona, Rosario, Aquino, Virginia, Salgado, Josefa, Pasalodos, Sara, Miranda, María, Alonso, Ángel, Dopazo, Joaquín
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Informatics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756735/
https://ncbi.nlm.nih.gov/pubmed/33058415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24120
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