Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis

被引:0
作者
Srecko Stepec
Jana Makuc
Sasa Markovic
Igor Medica
Borut Peterlin
机构
[1] University Medical Center Ljubljana,Division of Gastroenterology, Department of Internal Medicine
[2] University Medical Center Ljubljana,Division of Medical Genetics, Department of Gynecology and Obstetrics
来源
Annals of Hematology | 2008年 / 87卷
关键词
Serum Ferritin; Iron Overload; Transferrin Saturation; Compound Heterozygote; Hereditary Hemochromatosis;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:667 / 669
页数:2
相关论文
共 84 条
[1]  
Cimburova M(2002)Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of Guthrie cards in population of Czech Republic Genet Epidemiol 23 260-263
[2]  
Putova I(1997)Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis J Hepatol 27 773-779
[3]  
Provaznikova H(1996)A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 399-408
[4]  
Horak J(2001)HFE gene and hereditary hemochromatosis: a HuGe review Am J Epidemiol 154 194-206
[5]  
Datz C(1998)Celtic origin of the C282Y mutation of hemochromatosis Blood Cells Mol Dis 24 433-438
[6]  
Lalloz MRA(1997)Global prevalence of putative haemochromatosis mutations J Med Genet 34 275-278
[7]  
Vogel W(2000)Geography of HFE C282Y and H63D mutations Genet Test 4 183-198
[8]  
Graziadei I(2003)Polymorphism of the HFE gene associated with hereditary hemochromatosis in population of Russia Genetika 39 988-995
[9]  
Hackl F(2001)Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin Med Sci Monit 7 441-443
[10]  
Vautier G(1999)HFE mutations analysis in 711 hemochromatos probands: evidence for S65C implication in mild form of hemochromatosis Blood 93 2502-2505