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Article

Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2017

Yener İnci Hande, Topaloglu Haluk, Erdem-Özdamar Sevim, Dayangac-Erden Didem

Abstract excerpt

BACKGROUND: In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by degeneration of alpha motor neurons. Plastin 3 (PLS3) is a phenotypic modifier of SMA, and neuritin 1 (NRN1) has also been suggested as a possible...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27279027
DOI: 10.1111/ped.13052

Genes

NRN1
PLS3

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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