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Article

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Neuromuscular disorders : NMD - 1 Dec 2006

Arkblad Eva L, Darin Niklas, Berg Kerstin, Kimber Eva, Brandberg Göran, Lindberg Christopher, Holmberg Eva, Tulinius Mar, Nordling Margareta

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular...

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Source

Identifiers

PMID: 17049859
DOI: 10.1016/j.nmd.2006.08.011

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17049859-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.PMID 17049859Read ↗

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