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Article

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.

Journal of human genetics - 1 Nov 2015

Brkušanin Miloš, Kosać Ana, Jovanović Vladimir, Pešović Jovan, Brajušković Goran, Dimitrijević Nikola, Todorović Slobodanka, Romac Stanka, Milić Rašić Vedrana, Savić-Pavićević Dušanka

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene. Despite genetic homogeneity, phenotypic variability indicates the involvement of disease modifiers. SMN1 is located in 5q13.2 segmental duplication, enriched in genes and prone to unequal rea...

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Source

Identifiers

PMID: 26311540
DOI: 10.1038/jhg.2015.104

Genes

SMN2
SMN1
CNP
NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26311540-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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