Mutational analysis of SMN gene in patients with spinal muscular atrophy and the correlation between mutation and the severity of clinical manifestations

Mutational analysis of SMN gene in patients with spinal muscular atrophy and the correlation between mutation and the severity of clinical manifestations

<b>Objective:</b>&nbsp;studying of mutations in the SMN1, SMN2 and NAIP genes in the diagnosis of spinal muscular atrophy and determining the correlation between the mutation and the severity of clinical manifestations.<br> <b>Methods:</b>&nbsp;82 children with...

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Bibliographic Details
Main Authors: Almagul Nagimtaeeva, Dina Zhanataeva, Bakytgul Kamalieva, Gulshara Abildinova
Format: Article
Language:English
Published: National Scientific Medical Center 2017-09-01
Series:Ķazaķstannyṇ Klinikalyķ Medicinasy
Subjects:
spinal muscular atrophy
genes SMN1
SMN2 and NAIP
MLPA - method
deletion
Online Access:https://www.clinmedkaz.org/download/mutational-analysis-of-smn-gene-in-patients-with-spinal-muscular-atrophy-and-the-correlation-between-8907.pdf

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https://www.clinmedkaz.org/download/mutational-analysis-of-smn-gene-in-patients-with-spinal-muscular-atrophy-and-the-correlation-between-8907.pdf

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