Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations-Reference-Cited by-同舟云学术

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

Published:2013-04-18 Issue:2 Volume:162 Page:278-281
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Bardou-Jacquet Edouard¹²³,Cunat Severine⁴,Beaumont-Epinette Marie-Pascale⁵,Kannengiesser Caroline⁶,Causse Xavier⁷,Sauvion Sylvie⁸,Pouliquen Bruno⁹,Deugnier Yves¹²³,David Veronique⁵,Loréal Olivier¹³,Aguilar-Martinez Patricia⁴,Brissot Pierre¹²³,Jouanolle Anne-marie³⁵

Affiliation:

1. Inserm UMR 991; University of Rennes1; Rennes France

2. Liver Disease Department; University Hospital of Rennes; Rennes France

3. French Reference Centre for Rare Iron Overload Diseases of Genetic Origin; University Hospital of Rennes; Rennes France

4. Laboratory of Haematology; University Hospital of Montpellier; Montpellier France

5. Molecular Genetics Department; University Hospital of Rennes; Rennes France

6. AP-HP; Service de Génétique et Biochimie hormonale; Hôpital Bichat Claude Bernard; Université Paris Diderot; Paris France

7. Hepatology and Gastroenterology Department; Regional Hospital of Orléans; Orléans France

8. Pediatric department; AP-HP Hôpital Jean-Verdier; Bondy France

9. Gastroenterology; Centre Médical Saint Augustin; Nantes France

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.12350/fullpdf

Reference10 articles.

1. Simple and rapid detection of the newly described mutations in the HLA-H gene;Aguilar Martinez;Blood,1997

2. Iron-overload-related disease in HFE hereditary hemochromatosis;Allen;New England Journal of Medicine,2008

3. New TFR2 mutations in young Italian patients with hemochromatosis;Biasiotto;Haematologica,2008

4. Iron disorders of genetic origin: a changing world;Brissot;Trends in Molecular Medicine,2011

5. A conserved RGD (Arg-Gly-Asp) motif in the transferrin receptor is required for binding to transferrin;Dubljevic;The Biochemical Journal,1999

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