Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Author： Caprioli Jessica   Castelletti Federica   Bucchioni Sara   Bettinaglio Paola   Bresin Elena   Pianetti Gaia   Gamba Sara   Brioschi Simona   Daina Erica   Remuzzi Giuseppe   for the International Registry of Recurrent and Familial HUS/TTP  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.12, Iss.24, 2003-12, pp. : 3385-3395

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Functional interaction between −629C/A, −971G/A and −1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study

By Frisdal Eric  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2607-2618

Oxford University Press

Access to resources Recommend Favorite

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the gene

By Tzetis Maria   Efthymiadou Alexandra   Doudounakis Stavros   Kanavakis Emmanuel  

Human Genetics, Vol. 109, Iss. 6, 2001-12 ,pp. : 592-601

Springer Publishing Company

Access to resources Recommend Favorite

Cytochrome P450 1A1 ( CYP1A1 ) T3801C and A2455G polymorphisms in breast cancer risk: a meta-analysis

By Chen Chengwen   Huang Yan   Li Yao   Mao Yumin   Xie Yi  

Journal of Human Genetics, Vol. 52, Iss. 5, 2007-05 ,pp. : 423-435

Springer Publishing Company

Access to resources Recommend Favorite

Polymorphisms in the PON gene cluster are associated with Alzheimer disease

By Erlich Porat M.   Lunetta Kathryn L.   Cupples L. Adrienne   Huyck Matthew   Green Robert C.   Baldwin Clinton T.   Farrer Lindsay A.  

Human Molecular Genetics, Vol. 15, Iss. 1, 2006-01 ,pp. : 77-85

Oxford University Press

Access to resources Recommend Favorite

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations

By Jones Siân  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2961-2967

Oxford University Press

Access to resources Recommend Favorite