Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

被引：16

作者：

Bardou-Jacquet, Edouard ^{[1
,2
,3
]}

Cunat, Severine ^{[4
]}

Beaumont-Epinette, Marie-Pascale ^{[5
]}

Kannengiesser, Caroline ^{[6
]}

Causse, Xavier ^{[7
]}

Sauvion, Sylvie ^{[8
]}

Pouliquen, Bruno ^{[9
]}

Deugnier, Yves ^{[1
,2
,3
]}

David, Veronique ^{[5
]}

Loreal, Olivier ^{[1
,3
]}

Aguilar-Martinez, Patricia ^{[4
]}

Brissot, Pierre ^{[1
,2
,3
]}

Jouanolle, Anne-marie ^{[3
,5
]}

机构：

[1] Univ Rennes 1, INSERM, UMR 991, Rennes, France

[2] Univ Hosp Rennes, Liver Dis Dept, Rennes, France

[3] Univ Hosp Rennes, French Reference Ctr Rare Iron Overload Dis Genet, Rennes, France

[4] Univ Hosp Montpellier, Haematol Lab, Montpellier, France

[5] Univ Hosp Rennes, Dept Mol Genet, Rennes, France

[6] Univ Paris Diderot, AP HP, Hpital Bichat Claude Bernard, Serv Gnt & Biochim Hormonale, Paris, France

[7] Reg Hosp Orlans, Dept Gastroenterol & Hepatol, Orlans, France

[8] Hpital Jean Verdier, AP HP, Dept Pediat, Bondy, France

[9] Ctr Mdical St Augustin, Nantes, France

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2013年 / 162卷 / 02期

关键词：

iron overload; transferrin receptor 2; haemochromatosis; juvenile; MUTATIONS; HEPCIDIN; HFE;

D O I：

10.1111/bjh.12350

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：278 / 281

页数：4

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