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

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

European journal of human genetics : EJHG - 1 Jan 2010

Tiziano Francesco Danilo, Pinto Anna Maria, Fiori Stefania, Lomastro Rosa, Messina Sonia, Bruno Claudio, Pini Antonella, Pane Marika, D'Amico Adele, Ghezzo Alessandro, Bertini Enrico, Mercuri Eugenio, Neri Giovanni, Brahe Christina

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Three forms of SMA are recognized (type I-III) on the basis of clinical severity. All patients have at least one or more (usually 2-4) copies of a highly homologous gene (SMN2), which produces insufficient levels of functional SMN protein, because of alternative splicing of exon 7....

Read the complete abstract on PubMed

Topics

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

Share to Circadian Rhythm
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Heterozygote

Share to Leukocytes

Share to Muscular Atrophy, Spinal

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Survival of Motor Neuron 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 19603064
DOI: 10.1038/ejhg.2009.116
PMCID: PMC2987170

Genes

SMN2
SMN1

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

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.PMID 19603064Read ↗

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy ControlsSemantic proximity Read ↗

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.Semantic proximity Read ↗

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

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy ControlsSemantic proximity Read ↗

SMN mRNA and protein levels in peripheral bloodSemantic proximity Read ↗

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical StudySemantic proximity Read ↗

Hydroxyurea enhances <i>SMN2</i> gene expression in spinal muscular atrophy cellsSemantic proximity Read ↗

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.Semantic proximity Read ↗

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.Semantic proximity Read ↗

Discrepancy in redetermination of SMN2 copy numbers in children with SMASemantic proximity Read ↗

<i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRSemantic proximity Read ↗

[Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage].Semantic proximity Read ↗

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