首页> 外文OA文献 >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

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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

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

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Anna Aldea; Josep M. Campistol; Juan I. Arostegui; Josefa Rius; Montserrat Maso; Jordi Vives; Jordi Yagüe;
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年度 2003
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1. MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. [J] . Balci B, Tinaztepe K, Yilmaz E, Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association - European Renal Association . 2002,第11期

机译：儿童期肾性淀粉样变性家族性地中海热II型患者MEFV基因突变：回顾性临床病理和分子研究。
2. Colchicine-responsive chronic recurrent multifocal osteomyelitis with MEFV mutations: a variant of familial Mediterranean fever? [J] . Shimizu M, Tone Y, Toga A, Rheumatology . 2010,第11期

机译：秋水仙素反应性慢性复发性多灶性骨髓炎伴MEFV突变：家族性地中海热的变种吗？
3. Mediterranean fever gene variants and colchicine therapy in periodic fever, aphthous stomatitis pharyngitis, adenitis syndrome in a Mediterranean region [J] . Haytoglu Zeliha, Gundeslioglu Ozlem Ozgur Expert review of clinical immunology . 2019,第1a6期

机译：地中海的地中海发热基因变体和血晶氨酸疗法，地中海地区的腺炎综合征，腺炎综合征
4. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects [O] . Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, 2004

机译：家族性地中海热患者的淀粉样变性病：与MEFV基因型和SAA1和MICA多态性影响相关
5. Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene [O] . Ben-Chetrit, E, Backenroth, R 2001

机译：淀粉样变性病诱发的家族性地中海热患者的终末期肾脏疾病与MEFV基因的点突变高度相关

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

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