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Article

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

The Korean journal of laboratory medicine - 1 Apr 2010

Seong Moon Woo, Yeo Im Kyung, Cho Sung Im, Park Chul Kee, Kim Seung Ki, Paek Sun Ha, Kim Dong Gyu, Jung Hee Won, Park Hyunwoong, Kim So Yeon, Kim Ji Yeon, Park Sung Sup

Abstract excerpt

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patie...

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PMID: 20445339
DOI: 10.3343/kjlm.2010.30.2.190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20445339-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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