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

[Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].

Zhonghua yi xue za zhi - 13 May 2008

Long Mei-juan, Song Fang, Qu Yu-jin, Meng Yan, Wang Hong, Jin Yu-wei, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: To develop a rapid and reliable approach for testing the copy number of survival motor neuron (SMN) gene and analyze the compound heterozygous deletions of SMN1 gene. METHODS: Peripheral blood samples were collected from 38 non-homozygous deletion pediatric patients with SMA, 30 homozygous deletion patients with SMA, and 35 un-related healthy persons. SMN1 and SMN2 genes were amplified separately with...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Motor Neurons

Share to Muscular Atrophy, Spinal

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Spinal Muscular Atrophies of Childhood

Source

Identifiers

PMID: 18844099

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].PMID 18844099Read ↗

[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].Semantic proximity Read ↗

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Semantic proximity Read ↗

[Quantitative analysis of the genes determining spinal muscular atrophy].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 ↗

[The study of the correlation between the clinical phenotype of spinal muscular atrophy and SMN2 gene copy number].Semantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.Semantic proximity Read ↗

[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].Semantic proximity Read ↗

A multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of SMN1/SMN2/NAIP copy number and SMN1 loss-of-function variants.Semantic proximity Read ↗

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controlsSemantic proximity Read ↗

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.Semantic proximity Read ↗

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.Semantic proximity Read ↗

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.Semantic proximity Read ↗

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