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> 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> 82 children with suspicion of spina...
Saved in:
Main Authors: | Almagul Nagimtaeeva (Author), Dina Zhanataeva (Author), Bakytgul Kamalieva (Author), Gulshara Abildinova (Author) |
---|---|
Format: | Book |
Published: |
National Scientific Medical Center,
2017-09-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
by: Melissa Bowerman, et al.
Published: (2017) -
Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
by: Amanda C. Raimer, et al.
Published: (2020) -
<it>SMN1 </it>dosage analysis in spinal muscular atrophy from India
by: Leonard Debra GB, et al.
Published: (2005) -
Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
by: Audrey M. Winkelsas, et al.
Published: (2021) -
Genetic and expression studies of <it>SMN2 </it>gene in Russian patients with spinal muscular atrophy type II and III
by: Schiöth Helgi B, et al.
Published: (2011)