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

Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy.

Analytical and bioanalytical chemistry - 1 Jul 2010

Wang Chun-Chi, Jong Yuh-Jyh, Chang Jan-Gowth, Chen Yen-Ling, Wu Shou-Mei

Abstract excerpt

We have developed a capillary electrophoresis (CE) method with universal fluorescent multiplex PCR to simultaneously detect the SMN1 and SMN2 genes in exons 7 and 8. Spinal muscular atrophy (SMA) is a very frequent inherited disease caused by the absence of the SMN1 gene in approximately 94% of patients. Those patients have deletion of the SMN1 gene or gene conversion between SMN1 and SMN2. However, most methods...

Read the complete abstract on PubMed

Topics

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

Share to Electrophoresis, Capillary
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Conversion

Share to Gene Deletion

Share to Gene Dosage

Share to Muscular Atrophy, Spinal

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 20563565
DOI: 10.1007/s00216-010-3761-1

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy.PMID 20563565Read ↗

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 ↗

Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis.Semantic proximity Read ↗

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.Semantic proximity Read ↗

Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry.Semantic proximity Read ↗

Quantitative analysis of<i>SMN1</i>and<i>SMN2</i>genes based on DHPLC: A highly efficient and reliable carrier-screening testSemantic proximity Read ↗

A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system.Semantic proximity Read ↗

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Semantic proximity Read ↗

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.Semantic proximity Read ↗

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot StudySemantic proximity Read ↗

Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy.Semantic proximity Read ↗

A duplex allele-specific amplification PCR to detect SMN1 deletion.Semantic proximity Read ↗

Specific Gene Capture Combined with Restriction-Fragment Release for Directly Fluorescent Genotyping of Single-Nucleotide Polymorphisms in Diagnosing Spinal Muscular Atrophy.Semantic proximity Read ↗

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