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Article

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India.

Experimental & molecular medicine - 30 Jun 2005

Kesari Akanchha, Idris M Mohammed, Chandak Giri Raj, Mittal Balraj

Abstract excerpt

Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but the clinical severity may be modified by copy number of homologous gene SMN2 as well as the extent of deletion at SMN locus. In the view of scarcity of genotype and phenotype correlation data from India, this study has been undertaken...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16000867
DOI: 10.1038/emm.2005.20

Genes

SMN2
NAIP
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.

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