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-Reference-Cited by-同舟云学术

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

Published:2011-09 Issue:9 Volume:15 Page:587-594
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Alías Laura¹,Bernal Sara¹,Barceló Maria J.¹,Also-Rallo Eva¹,Martínez-Hernández Rebeca¹,Rodríguez-Alvarez Francisco J.²,Hernández-Chico Concepción²,Baiget Montserrat¹,Tizzano Eduardo F.¹

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