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Article

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Journal of Korean medical science - 1 Dec 2004

Lee Tae-Mi, Kim Sang-Wun, Lee Kwang-Soo, Jin Hyun-Seok, Koo Soo Kyung, Jo Inho, Kang Seongman, Jung Sung-Chul

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients with SMA and their...

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Share to Cyclic AMP Response Element-Binding Protein
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Quantitative Trait, Heritable

Share to RNA-Binding Proteins

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Share to Survival of Motor Neuron 1 Protein

Source

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Identifiers

PMID: 15608400
DOI: 10.3346/jkms.2004.19.6.870
PMCID: PMC2816285

Genes

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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