The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis

被引：88
作者：
Beutler, E [1 ]
机构：
[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA
来源：
BLOOD | 2003年 / 101卷 / 09期
关键词：
D O I：
10.1182/blood-2002-06-1747
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：3347 / 3350
页数：4
相关论文
共 47 条
[1]   EASL International Consensus Conference on Haemochromatosis - Part II. Expert document [J].
Adams, P ;
Brissot, P ;
Powell, L .
JOURNAL OF HEPATOLOGY, 2000, 33 (03) :487-496
[2]   INCREASED RISK OF VENOUS THROMBOSIS IN CARRIERS OF HEREDITARY PROTEIN-C DEFICIENCY DEFECT [J].
ALLAART, CF ;
POORT, SR ;
ROSENDAAL, FR ;
REITSMA, PH ;
BERTINA, RM ;
BRIET, E .
LANCET, 1993, 341 (8838) :134-138
[3]   Screening for hereditary haemochromatosis should be implemented now [J].
Allen, K ;
Williamson, R .
BRITISH MEDICAL JOURNAL, 2000, 320 (7228) :183-184
[4]  
Åsberg A, 2001, SCAND J GASTROENTERO, V36, P1108
[5]   Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA [J].
Beutler, E ;
Felitti, VJ ;
Koziol, JA ;
Ho, NJ ;
Gelbart, T .
LANCET, 2002, 359 (9302) :211-218
[6]   Tumor necrosis factor α promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A (C282Y) hereditary hemochromatosis mutation [J].
Beutler, E ;
Gelbart, T .
BLOOD, 2002, 100 (06) :2268-2269
[7]   Discrepancies between genotype and phenotype in hematology: an important frontier [J].
Beutler, E .
BLOOD, 2001, 98 (09) :2597-2602
[8]   Molecular characterization of a case of atransferrinemia [J].
Beutler, E ;
Gelbart, T ;
Lee, P ;
Trevino, R ;
Fernandez, MA ;
Fairbanks, VF .
BLOOD, 2000, 96 (13) :4071-4074
[9]  
Bradley L A, 1996, J Med Screen, V3, P178
[10]   Disease-related conditions in relatives of patients with hemochromatosis. [J].
Bulaj, ZJ ;
Ajioka, RS ;
Phillips, JD ;
LaSalle, BA ;
Jorde, LB ;
Griffen, LM ;
Edwards, CQ ;
Kushner, JP .
NEW ENGLAND JOURNAL OF MEDICINE, 2000, 343 (21) :1529-1535
12345