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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: Blasco‐Pérez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes‐Prior, Pablo, Cuscó, Ivon, Tizzano, Eduardo F.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2021
Gaiak:
Methods
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8252042/
https://ncbi.nlm.nih.gov/pubmed/33739559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24200
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