A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Tada Hayato; Kawashiri Masa-aki; Okada Hirofumi; Endo Saori; Toyoshima Yuka; Konno Tetsuo; Nohara Atsushi; Inazu Akihiro; Takao Akira; Mabuchi Hiroshi; Yamagishi Masakazu; Hayashi Kenshi

Art

J-GLOBAL ID：201602274302957587 Reference number：16A1276713

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Whole Exome Sequencingによって同定されたシトステロール血症と家族性地中海熱のまれな一致

Publisher site {{ this.onShowPLink() }} Copy service {{ this.onShowCLink("http://jdream3.com/copy/?sid=JGLOBAL&noSystem=1&documentNoArray=16A1276713&COPY=1") }}
Access JDreamⅢ for advanced search and analysis. {{ this.onShowJLink("http://jdream3.com/lp/jglobal/index.html?docNo=16A1276713&from=J-GLOBAL&jstjournalNo=U0153A") }}

Author (12)： , , , , , , , , , , ,
Material：
Volume： 23 Issue： 7 Page： 884-890(J-STAGE) Publication year： 2016
JST Material Number： U0153A ISSN： 1880-3873 Document type： Article
Article type：原著論文 Country of issue： Japan (JPN) Language： ENGLISH (EN)

,...
,...

To see more with JDream III (charged). {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=16A1276713&from=J-GLOBAL&jstjournalNo=U0153A") }}

Author keywords (5)： , , , ,

Congenital diseases,deformities in general. , Immunologic diseases,allergic diseases in general. , Metabolic diseases,nutritional diseases in general.

Reference (19)：

1) Shulman RS, Bhattacharyya AK, Connor WE, Fredrickson DS: Beta-sitosterolemia and xanthomatosis. N Engl J Med, 1976; 294: 482-483
2) Tada H, Kawashiri MA, Takata M, Matsunami K, Imamura A, Matsuyama M, Sawada H, Nunoi H, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M: Infantile cases of sitosterolaemia with novel mutations in the ABCG5 gene: Extreme hypercholesterolaemia is exacerbated by breastfeeding. JIMD Rep, 2015; 21: 115-122
3) Salen G, Patel S, Batta AK: Sitosterolemia. Cardiovasc Drug Rev, 2002; 20: 255-270
4) Sohar E, Gafni J, Pras M, Heller H: Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med, 1967; 43: 227-253
5) French FMF Consortium: A candidate gene for familial Mediterranean fever. Nat Genet, 1997; 17: 25-31

ｍore...

, ,

Return to Previous Page