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Article

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

Brain & development - 1 Aug 2015

Harahap Nur Imma Fatimah, Takeuchi Atsuko, Yusoff Surini, Tominaga Koji, Okinaga Takeshi, Kitai Yukihiro, Takarada Toru, Kubo Yuji, Saito Kayoko, Sa'adah Nihayatus, Nurputra Dian Kesumapramudya, Nishimura Noriyuki, Saito Toshio, Nishio Hisahide

Abstract excerpt

BACKGROUND: More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion polymorphism has been identified at c.-320_-321 in the SMN1 promoter. We have also found this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

Identifiers

PMID: 25459970
DOI: 10.1016/j.braindev.2014.10.006

Genes

SMN2
SMN1

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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Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.PMID 25459970Read ↗

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