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Article

C117T variant in the SMN1 gene found in the Japanese population.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2007

Sadewa Ahmad Hamim, Harada Yosuke, Sasongko Teguh Haryo, Matsuo Masafumi, Nishio Hisahide

Abstract excerpt

BACKGROUND: The SMN genes are closely related to the development of spinal muscular atrophy (SMA); mutated SMN1 causes SMA and functional SMN2 modifies the severity of SMA. SMN1 and SMN2 are almost identical, being distinguished by only five base pair substitutions located at the 3'-end of the genes. Recently, a synonymous DNA variant, C117T, has been identified at the first codon of SMN2 exon 2a in the Caucasian...

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Source

Identifiers

PMID: 17250497
DOI: 10.1111/j.1442-200X.2007.02301.x

Genes

SMN1
SMN2

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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