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Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease.

Genetic testing and molecular biomarkers - 1 Dec 2009

Stavarachi Monica, Toma Mihai, Butoianu Niculina, Gavrila Lucian

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by weakness and atrophy of proximal muscles. Despite the fact that the disease transmission suggests an autosomal recessive trait, the wide spectrum of clinical manifestations indicates that other genes may contribute to the SMA phenotype. To identify possible modifier genes, the aim of our study was to investigate the relationship between...

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PMID: 19839757
DOI: 10.1089/gtmb.2009.0086

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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