Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Spinal muscular atrophy (SMA) is caused by bi‐allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2 copy number is essential to establish robust genotype–phenotype correlations...

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Detalles Bibliográficos
Autores principales: Blasco‐Pérez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes‐Prior, Pablo, Cuscó, Ivon, Tizzano, Eduardo F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252042/
https://www.ncbi.nlm.nih.gov/pubmed/33739559
http://dx.doi.org/10.1002/humu.24200

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