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Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study.

Clinical and experimental rheumatology - 1 Jan 2000

Koga Tomohiro, Sato Shuntaro, Mishima Hiroyuki, Migita Kiyoshi, Endo Yushiro, Umeda Masataka, Sumiyoshi Remi, Nonaka Fumiaki, Fukui Shoichi, Kawashiri Shin-Ya, Iwamoto Naoki, Ichinose Kunihiro, Tamai Mami, Nakamura Hideki, Origuchi Tomoki, Ueki Yukitaka, Masumoto Junya, Agematsu Kazunaga, Yachie Akihiro, Yoshiura Koh-Ichiro, Eguchi Katsumi, Kawakami Atsushi

Abstract excerpt

OBJECTIVES: We aimed to identify the whole nucleotide sequence of the Mediterranean fever (MEFV) gene in familial Mediterranean fever (FMF) and reveal novel single nucleotide variants (SNVs) associated with the susceptibility of FMF. METHODS: SeqCap capturing technique followed by Illumina next-generation sequencing have been used to assess two hundred SNVs in the whole region of MEFV in 266 Japanese patients...

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PMID: 33025889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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