Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy Number in Patients with Spinal Muscular Atrophy
Author:
Affiliation:
1. Servicio de Genética, Hospital de la Santa Creu i Sant Pau, CIBERER (U705), Barcelona, Spain.
2. Unidad de Genética, Hospital Ramón y Cajal, CIBERER (U728), Madrid, Spain.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0253
Reference18 articles.
1. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
2. Determination of SMN1 and SMN2 copy number using TaqMan™ technology
3. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
4. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene
5. Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases
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3. Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing;Brain and Development;2022-08
4. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2;International Journal of Molecular Sciences;2022-07-27
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