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

<h2>Background</h2><p dir="ltr">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.</p><h2>Methods</h2&g...

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Bibliographic Details
Main Author: Faisal Ibrahim (317415) (author)
Other Authors: Dinesh Velayutham (5444072) (author), Mohamed Alsharshani (14778928) (author), Usama AlAlami (17039846) (author), Manar AlDewik (17760123) (author), Tala Abuarja (17075070) (author), Hilal Al Rifai (17760126) (author), Nader I. Al‐Dewik (14778934) (author)
Published: 2023
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Neurosciences
Human society
Human geography
copy number (CN) variations
SMA
SMN1
SMN2
SNPs
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