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Article

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.

European journal of human genetics : EJHG - 1 Oct 2007

Alias Laura, Barceló Maria J, Gich Ignasi, Estapé Marta, Parra Juan, Amenedo Maria, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterised by degeneration and loss of the motor neurons of the anterior horn of the spinal cord. The absence of SMN1 is determinant to have SMA and parents of SMA patients are regarded as carriers of the disease. We compared the segregation ratio of the mutated allele and the wild-type allele of all the confirmed carrier parents assuming...

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

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Source

Identifiers

PMID: 17625510
DOI: 10.1038/sj.ejhg.5201886

Genes

SMN1

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.

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