A homozygous double mutation in SMN 1 : a complicated genetic diagnosis of SMA
Author:
Affiliation:
1. Molecular Diagnostics Laboratory Nemours/Alfred I. duPont Hospital for Children Wilmington Delaware 19803
2. Dhahran Health Center Dhahran Saudi Arabia
Funder
Alfred I. duPont Hospital for Children of the Nemours Foundation
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.10
Reference20 articles.
1. A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia;Al Jumah M.;J. Pediatr. Neurol.,2007
2. Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar
3. Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients
4. A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
5. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
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