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First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused in 95% of cases by homozygous SMN1 exon 7 deletion, with severity primarily determined by the modifier genes SMN2 and NAIP copy numbers. Objective: This study, the first in the Moroccan population, simultaneously analyzed S...

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Autors principals: Samira Nmer, Said Trhanint, Hanane Sayel, Sana Chaouki, Laila Bouguenouch, Karim Ouldim
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2026-03-01
Col·lecció:Molecular Genetics and Metabolism Reports
Matèries:
Moroccan
SMA
SMN
NAIP
Gene copy number
Severity
Accés en línia:http://www.sciencedirect.com/science/article/pii/S221442692600011X
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