Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy-Reference-Cited by-同舟云学术

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

Published:2006-12 Issue:12 Volume:16 Page:830-838
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Arkblad Eva L.,Darin Niklas,Berg Kerstin,Kimber Eva,Brandberg Göran,Lindberg Christopher,Holmberg Eva,Tulinius Mar,Nordling Margareta

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Spinal muscular atrophy: molecular genetics and diagnostics;Ogino;Expert Rev Mol Diagn,2004

2. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations;Ogino;Eur J Hum Genet,2004

3. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling;Cusin;J Med Genet,2003

4. The SMN complex;Gubitz;Exp Cell Res,2004

5. Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy;Scott;Muscle Nerve,1982

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1. A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay;PLOS ONE;2024-08-01

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3. Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome;Genetic Testing and Molecular Biomarkers;2024-05-01

4. Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR;BMC Neurology;2024-03-11

5. Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context;Journal of Biosciences;2024-02-20

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