家族性地中海热观念的转变：仅携带一个突变就可能患常染色体隐性疾病吗？ - Suppr

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Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation?

作者信息

Ozen Seza

出版信息

Arthritis Rheum. 2009 Jun;60(6):1575-7. doi: 10.1002/art.24565.

DOI:10.1002/art.24565

PMID:19479854

Abstract

摘要

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相似文献

Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation?

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Acta Medica (Hradec Kralove). 2014;57(3):97-104. doi: 10.14712/18059694.2014.47.

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Joint Bone Spine. 2011 Mar;78(2):111-4. doi: 10.1016/j.jbspin.2010.09.021. Epub 2010 Nov 11.

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J Med Liban. 2008 Jan-Mar;56(1):35-41.

Cutaneous necrotizing vasculitis as a manifestation of familial Mediterranean fever.

J Dermatol. 2014 Sep;41(9):827-9. doi: 10.1111/1346-8138.12588. Epub 2014 Aug 11.

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Genet Med. 2011 Mar;13(3):263-9. doi: 10.1097/GIM.0b013e31820e27b1.

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Med Clin (Barc). 2010 May 15;134(14):661-2. doi: 10.1016/j.medcli.2009.03.004. Epub 2009 May 26.

Esophagitis and widespread aphthous ulcerations in gastric mucosa in an infant with familial Mediterranean fever.

J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):e11-3. doi: 10.1097/MPG.0b013e3182906d8f.

引用本文的文献

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Front Immunol. 2017 Mar 23;8:253. doi: 10.3389/fimmu.2017.00253. eCollection 2017.

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Nat Immunol. 2016 Aug;17(8):914-21. doi: 10.1038/ni.3457. Epub 2016 Jun 6.

Patient with FMF and Triple MEFV Gene Mutations.

Med Arch. 2015 Aug;69(4):269-70. doi: 10.5455/medarh.2015.69.269-270. Epub 2015 Aug 4.

Familial Mediterranean fever without MEFV mutations: a case-control study.

Orphanet J Rare Dis. 2015 Mar 25;10:34. doi: 10.1186/s13023-015-0252-7.

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Medicine (Baltimore). 2014 May;93(3):158-164. doi: 10.1097/MD.0000000000000029.