Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.

Internal medicine (Tokyo, Japan) - 15 Aug 2018

Kimura Kazuki, Mizooka Masafumi, Migita Kiyoshi, Ishida Ryoko, Matsumoto Masatoshi, Yamasaki Satoshi, Kishikawa Nobusuke, Kawahara Akihiro, Kikuchi Yuka, Otani Yuichiro, Kobayashi Tomoki, Miyamori Daisuke, Ikuta Takuya, Nakamura Hiroshi, Yokobayashi Kenichi, Iwamoto Shuichi, Kanno Keishi, Ohira Hiromasa, Tazuma Susumu

Abstract excerpt

Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of Mediterranean fever (MEFV) detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Colchicine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Familial Mediterranean Fever

Share to Rare Diseases

Share to Treatment Outcome

Source

Open in PubMed Open full text

Identifiers

PMID: 29526930
DOI: 10.2169/internalmedicine.0057-17
PMCID: PMC6148168

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.PMID 29526930Read ↗

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.Semantic proximity Read ↗

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.Semantic proximity Read ↗

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of<i>MEFV</i>gene mutations in Japanese and Mediterranean populationsSemantic proximity Read ↗

Clinical and genetic features of familial Mediterranean fever in Japan.Semantic proximity Read ↗

Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.Semantic proximity Read ↗

Familial Mediterranean fever in Japan.Semantic proximity Read ↗

Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.Semantic proximity Read ↗

A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.Semantic proximity Read ↗

MEFV mutation analysis of familial Mediterranean fever in Japan.Semantic proximity Read ↗

Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene Mutation.Semantic proximity Read ↗

Clinical study of 7 cases of familial Mediterranean fever with MEFV gene mutation.Semantic proximity Read ↗

Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.