⌘+K

Pulse Explore Communities Researchers Journals

Home Communities Explore

October 10, 2024

[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].

Wen‐Chen Huang Jin-li Bai Hong Wang Yuwei Jin Xiaoyin Peng Xiushan Ge Hui Jiao Yu-jin Qu Fang Song

View at Publisher

Ask AI

Bookmark

Share

Abstract

To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA).

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Huang et al. (2024) studied this question.

synapsesocial.com/papers/68e55b65e2b3180350ef91e6 https://doi.org/10.3760/cma.j.cn511374-20231017-00199

View at Publisher

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy2025 · 5 citations
2Unraveling the Genetic Mysteries of Spinal Muscular Atrophy in Chinese Families2024
3Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational studycohort · 2025 · 8 citations
4Unraveling the genetic mysteries of spinal muscular atrophy in Chinese familiescohort · 2025 · 2 citations
5Homozygous <i>SMN1</i> deletions in unaffected family members and modification of the phenotype by <i>SMN2</i>Original Research · 2004 · 164 citations

More related papers

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study2026
[Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy].2019
A population‐based study of genotypic and phenotypic variability in children with spinal muscular atrophy2009