Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q

Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q

Background. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by loss of motor neurons. The cause of neurodegeneration is predominantly a homozygous deletion of the SMN1 gene, leading to a decrease in the synthesis of the SMN protein. The clinical picture o...

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Bibliographic Details
Main Authors: A. I. Vlasenko, V. D. Nazarov, S. V. Lapin, A. V. Mazing, E. A. Surkova, T. V. Blinova, T. M. Alekseeva
Format: Article
Language:Russian
Published: ABV-press 2024-12-01
Series:Нервно-мышечные болезни
Subjects:
spinal muscular atrophy 5q
smn1
smn2
survival motor neuron protein
modifier
Online Access:https://nmb.abvpress.ru/jour/article/view/632
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