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

Endo Y.; Koga T.; Nakashima M.; Mishima H.; Yoshiura K.; Kawakami A.

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

机译：非典型表型没有发烧，日本家庭，具有杂合MEFV THR577ASN突变引起的家族地中海发烧的常染色体显性传播

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来源
《Clinical and experimental rheumatology》 |2019年第121期|共2页
作者
Endo Y.; Koga T.; Nakashima M.; Mishima H.; Yoshiura K.; Kawakami A.;
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作者单位

Nagasaki Univ Grad Sch Biomed Sci Unit Adv Prevent Med Sci Dept Immunol &

Rheumatol 1-7-1;

Nagasaki Univ Grad Sch Biomed Sci Unit Adv Prevent Med Sci Dept Immunol &

Rheumatol 1-7-1;

Kurume Univ Ctr Rheumat Dis Med Ctr Kurume Fukuoka Japan;

Nagasaki Univ Dept Human Genet Atom Bomb Dis Inst Nagasaki Japan;

Nagasaki Univ Dept Human Genet Atom Bomb Dis Inst Nagasaki Japan;

Nagasaki Univ Grad Sch Biomed Sci Unit Adv Prevent Med Sci Dept Immunol &

Rheumatol 1-7-1;

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正文语种 eng
中图分类免疫性疾病;
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专利

1. Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations [J] . Endo Y., Koga T., Nakashima M., Clinical and experimental rheumatology . 2019,第6Suppla121期

机译：非典型表型没有发烧，日本家庭，具有杂合MEFV THR577ASN突变引起的家族地中海发烧的常染色体显性传播
2. Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. [J] . Moradian MM, Sarkisian T, Ajrapetyan H, Journal of human genetics . 2010,第6期

机译：在亚美尼亚大量家族性地中海热患者的基因型-表型研究表明，MEFV杂合突变的临床疾病。
3. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecularn study [J] . Hakan Gumus Nephrology Dialysis Transplantation . 2010,第8期

机译：家族性地中海热表型中MEFV基因复合杂合突变的回顾性临床和分子研究
4. A HETEROZYGOTfC JAPANESE PATIENT WITH FAMILIAL MEDITERRANEAN FEVER (FR/1F) PYRIN M694I [C] . Terazaki H, Okuda A, Katase K, International Symposium on Amyloidosis . 2005

机译：一种杂合子富氟日本患者，具有家族性地中海热（FR / 1F）吡林M694i
5. Defining the function of Pyrin, the Familial Mediterranean Fever-associated protein, in inflammation. [D] . Hesker, Pamela Rose. 2012

机译：定义了Pyrin（家族性地中海热相关蛋白）在炎症中的功能。
6. Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration [O] . D Rowczenio, D Iancu, H Trojer, 2015

机译：MEFV的缺失导致p.M694残基的丢失这是西北欧高加索人常染色体显性家族性地中海热的原因-病例系列和遗传探索
7. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic [O] . Anna Aldea, Josep M. Campistol, Juan I. Arostegui, 2003

机译：具有肾AA淀粉样变性的严重常规常血糖常数定期炎症性疾病和与西班牙语的MEFV H478Y变体相关的血管素抗性：一种不寻常的家族性地中海发热表型或其他MEFV相关的周期性

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

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