Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients-Reference-Cited by-同舟云学术

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

Published:2021-04-06 Issue:6 Volume:42 Page:787-795
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Blasco‐Pérez Laura¹²^ORCID,Paramonov Ida¹²,Leno Jordi¹²^ORCID,Bernal Sara³⁴,Alias Laura³⁴^ORCID,Fuentes‐Prior Pablo⁵^ORCID,Cuscó Ivon¹²⁴^ORCID,Tizzano Eduardo F.¹²^ORCID

Affiliation:

1. Medicine Genetics Group Vall d'Hebron Research Institute (VHIR) Barcelona Spain

2. Department of Clinical and Molecular Genetics Hospital Vall d'Hebron Barcelona Spain

3. Genetics Department Hospital de la Santa Creu i Sant Pau Barcelona Spain

4. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)

5. Molecular Bases of Disease, Biomedical Research Institute Sant Pau (IIB Sant Pau) Hospital de la Santa Creu i Sant Pau Barcelona Spain

Funder

Fundació Privada Daniel Bravo Andreu

Biogen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24200

Reference32 articles.

1. 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

2. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

3. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

4. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

5. Trimmomatic: a flexible trimmer for Illumina sequence data

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