Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.

Endo, Yushiro; Koga, Tomohiro; Nakashima, Munetoshi; Mishima, Hiroyuki; Yoshiura, Koh-Ichiro; Kawakami, Atsushi

Endo, Yushiro; Koga, Tomohiro; Nakashima, Munetoshi; Mishima, Hiroyuki; Yoshiura, Koh-Ichiro; Kawakami, Atsushi.

Afiliación

Endo Y; Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Koga T; Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. tkoga@nagasaki-u.ac.jp.
Nakashima M; Centre for Rheumatic Diseases, Kurume University Medical Centre, Kurume, Japan.
Mishima H; Department of Human Genetics, Nagasaki University Atomic Bomb Disease Institute, Nagasaki, Japan.
Yoshiura KI; Department of Human Genetics, Nagasaki University Atomic Bomb Disease Institute, Nagasaki, Japan.
Kawakami A; Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Clin Exp Rheumatol ; 37 Suppl 121(6): 161-162, 2019.

Article en En | MEDLINE | ID: mdl-31573478

Asunto(s)

Fiebre Mediterránea Familiar; Mutación; Fiebre Mediterránea Familiar/genética; Estudios de Asociación Genética; Heterocigoto; Humanos; Japón; Mutación/genética; Fenotipo; Pirina

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Bases de datos: MEDLINE Asunto principal: Fiebre Mediterránea Familiar / Mutación Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Clin Exp Rheumatol Año: 2019 Tipo del documento: Article País de afiliación: Japón

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