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

Human mutation - 1 Jun 2021

Blasco-Pérez Laura, Paramonov Ida, Leno Jordi, Bernal Sara, Alias Laura, Fuentes-Prior Pablo, Cuscó Ivon, Tizzano Eduardo F

Abstract excerpt

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 and predict disease evolution, to stratify patients for clinical trials, as well as to define those eligible for...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

Share to Muscular Atrophy, Spinal

Share to Survival of Motor Neuron 1 Protein

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Identifiers

PMID: 33739559
DOI: 10.1002/humu.24200
PMCID: PMC8252042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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