Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.

Genetics and molecular research : GMR - 13 Sept 2013

Liu W L, Li F, He Z X, Ai R, Ma H W

Abstract excerpt

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the sequencing peak height of the two different base pairs of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Exons
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Muscular Atrophy, Spinal

Share to Polymerase Chain Reaction

Share to Sequence Deletion

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 24085424
DOI: 10.4238/2013.September.13.4

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.PMID 24085424Read ↗

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.Semantic proximity Read ↗

SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.Semantic proximity Read ↗

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.Semantic proximity Read ↗

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.Semantic proximity Read ↗

Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.Semantic proximity Read ↗

[Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation].Semantic proximity Read ↗

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.Semantic proximity Read ↗

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.Semantic proximity Read ↗

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.Semantic proximity Read ↗

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.Semantic proximity Read ↗

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.Semantic proximity Read ↗

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.