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

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.

Annals of laboratory medicine - 1 Jan 2021

Pan Jianyan, Zhang Chunhua, Teng Yanling, Zeng Sijing, Chen Siyi, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby paralog gene, SMN2, obstructs the specific detection of SMN1. We optimized a duplexed real-time PCR approach using locked nucleic acid (LNA)-modified primers to specifically detect SMN1. METHODS: An LNA-modified...

Read the complete abstract on PubMed

Topics

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

Share to Double-Blind Method
Share to Dried Blood Spot Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscular Atrophy, Spinal

Share to Oligonucleotides

Share to Real-Time Polymerase Chain Reaction

Share to Sensitivity and Specificity

Share to Survival of Motor Neuron 1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 32829585
DOI: 10.3343/alm.2021.41.1.101
PMCID: PMC7443528

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.PMID 32829585Read ↗

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

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.Semantic proximity Read ↗

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined ImmunodeficiencySemantic proximity Read ↗

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint-PetersburgSemantic proximity Read ↗

Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Semantic proximity Read ↗

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint PetersburgSemantic proximity Read ↗

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot ProjectSemantic 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 ↗

[A pilot study on spinal muscular atrophy carrier screening in Shanghai region using real-time PCR].Semantic proximity Read ↗

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) geneSemantic proximity Read ↗

Spinal muscular atrophy: molecular genetics and diagnostics.Semantic proximity Read ↗

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

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