Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

doi:10.1038/sj.ejhg.5200210

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Article

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

European journal of human genetics : EJHG - 1 Jan 2000

Taylor J E, Thomas N H, Lewis C M, Abbs S J, Rodrigues N R, Davies K E, Mathew C G

Abstract excerpt

Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor neuron gene (SMNt) in most patients, and deletion of the neuronal apoptosis inhibitory protein (NAIP) gene in the majority of severely affected patients. Analysis of SMNt h...

Topics

Age of Onset
Cohort Studies
Cyclic AMP Response Element-Binding Protein
Fluorometry
Gene Dosage
Heterozygote
Homozygote
Humans
Muscular Atrophy, Spinal
Nerve Tissue Proteins
Neuronal Apoptosis-Inhibitory Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

RNA-Binding Proteins

SMN Complex Proteins

Survival Analysis

Survival of Motor Neuron 1 Protein

Survival of Motor Neuron 2 Protein

Source

Open in PubMed

Identifiers

PMID: 9801871
DOI: 10.1038/sj.ejhg.5200210

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9801871-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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