Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic relatedness and copy number (CN) var...

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Bibliographic Details
Main Authors: Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
copy number (CN) variations
SMA
SMN1
SMN2
SNPs
Online Access:https://doi.org/10.1002/mgg3.2184

Internet

https://doi.org/10.1002/mgg3.2184

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