Quick MLPA test for quantification of SMN1 and SMN2 copy numbers-Reference-Cited by-同舟云学术

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Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Published:2010-10 Issue:5 Volume:24 Page:310-314
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Passon Nadia,Dubsky de Wittenau Giorgia,Jurman Irena,Radovic Slobodanka,Bregant Elisa,Molinis Cristiano,Damante Giuseppe,Lonigro Incoronata Renata

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference23 articles.

1. Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to “non-Duchenne muscular dystrophy”;Tangsrud;Clin Genet,1988

2. A Hungarian study on Werdnig–Hoffmann disease;Czeizel;J Med Genet,1989

3. Population frequencies of inherited neuromuscular diseases - a world survey;Emery;Neuromuscul Disord,1991

4. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling;Wirth;Am J Hum Genet,1999

5. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy;Lorson;Proc Natl Acad Sci,1999

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Relationship between the occurrence of benign fasciculations, patient‘s psychological profile, biochemical parameters, and mutations in the SMN1 gene;Česká a slovenská neurologie a neurochirurgie;2024-06-30

2. Molecular genetics of spinal muscular atrophy;Diagnostic Molecular Pathology;2024

3. Exonic copy number variations in rare genetic disorders;Journal of Genetic Medicine;2023-12-31

4. Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies;International Journal of Molecular Sciences;2023-10-03

5. Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA;Gene;2022-05

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