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Article

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.

Journal of human genetics - 1 Aug 2016

Jang Mi-Ae, Kim Young-Eun, Kim Sun Kyung, Lee Myoung-Keun, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

Neurofibromatosis type I (NF1) is an autosomal dominant genetic disorder caused by NF1 mutations. Although mutations affecting mRNA splicing are the most common molecular defects in NF1, few studies have analyzed genomic DNA (gDNA)-mRNA correlations in Korean NF1 patients. In this study, we investigated 28 unrelated NF1 patients who showed splicing alterations in reverse transcription-PCR of NF1 mRNA and...

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Identifiers

PMID: 27074763
DOI: 10.1038/jhg.2016.33

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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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