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Article

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.

Brain & development - 1 Aug 2001

Diep Tran T, Kroepfl T, Saito M, Nagura M, Ichiseki H, Kubota M, Toda T, Sakakihara Y

Abstract excerpt

Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder with progressive weakness and atrophy of voluntary muscles. The survival motor neuron gene (SMN) is present in two highly homologous copies (SMN1 and SMN2) on chromosome 5q13. Homozygous deletion of exons 7 and 8 of SMN1...

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Share to Chromosomes, Human, Pair 5
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11504604
DOI: 10.1016/s0387-7604(01)00234-0

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11504604-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.PMID 11504604Read ↗

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.Semantic proximity Read ↗

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.Semantic proximity Read ↗

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.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 ↗

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 ↗

Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.Semantic proximity Read ↗

Association of Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Gene With the Natural History in a Chinese Spinal Muscular Atrophy CohortSemantic proximity Read ↗

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

[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].Semantic 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 analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.Semantic proximity Read ↗

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.Semantic proximity Read ↗

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