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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

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

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期刊名称 Pediatric Rheumatology Online Journal
作者
D Rowczenio; D Iancu; H Trojer; J Gilbertson; J Gillmore; A Wechalekar; M Tekman; H Stanescu; R Kleta; T Lane; P Hawkins; H Lachmann;
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年(卷),期 2015(13),Suppl 1
年度 2015
页码 O42
总页数 1
原文格式 PDF
正文语种
中图分类儿科学;免疫性疾病;
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1. 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 [J] . D Rowczenio, D Iancu, H Trojer, Pediatric rheumatology online journal . 2015,第S1期

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
2. Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p. M694 residue-a case series and genetic exploration [J] . Rowczenio Dorota M., Iancu Daniela S., Trojer Hadija, Rheumatology . 2017,第2期

机译：欧洲北部高加索人的常染色体占优势家族地中海发烧，与缺失p。 M694残留物 - 案例系列和遗传勘探
3. 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
4. Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever. [O] . M F McDermott, E M McDermott, K A Quane, 1998

机译：排除家族性地中海热病所在地点作为常染色体显性家族性希伯利亚热的易感区域。
5. 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

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

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