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Article

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.

Acta paediatrica (Oslo, Norway : 1992) - 1 May 2009

Arkblad Eva, Tulinius Már, Kroksmark Anna-Karin, Henricsson Mirja, Darin Niklas

Abstract excerpt

AIMS: To describe the occurrence of spinal muscular atrophy (SMA) in childhood; to evaluate if any of the genes in the SMA region on chromosome 5q13 correlates with disease severity; to make genotype-phenotype correlations; to evaluate the variability of different disease alleles in carriers and the sensitivity of multiplex ligation-dependent probe amplification (MLPA) for detecting carriers. METHODS: In a...

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Source

Identifiers

PMID: 19154529
DOI: 10.1111/j.1651-2227.2008.01201.x

Genes

SMN1
SMN2

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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