Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele-Reference-Cited by-同舟云学术

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

Published:2017-10-23 Issue:12 Volume:92 Page:E664-E666
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Uguen Kevin¹,Scotet Virginie²³,Ka Chandran²⁴⁵,Gourlaouen Isabelle²³⁵,L'hostis Carine²⁶,Merour Marie-Christine³,Cuppens Tania¹²,Ferec Claude¹²³⁵,Le Gac Gerald¹²³⁴⁵^ORCID

Affiliation:

1. Université Bretagne Loire, Université de Bretagne Occidentale, IBSAM; Brest France

2. Inserm U1078; Brest France

3. Etablissement Français du Sang; Brest France

4. Laboratory of Excellence GR-Ex; Paris France

5. Laboratoire de Genetique Moleculaire et Histocompatibilité, CHRU de Brest, Hopital Morvan; Brest France

6. Association Gaetan Saleun; Brest France

Funder

French Blood Agency

Publisher

Wiley

Subject

Hematology

Reference7 articles.

1. EASL clinical practice guidelines for HFE hemochromatosis;European Association for the Study of the Liver;J Hepatol.,2010

2. HFE gene: structure, function, mutations, and associated iron abnormalities;Barton;Gene.,2015

3. Heterozygous mutations in BMP6 propeptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans;Daher;Gastroenterology.,2016

4. A very rare association of three mutations of the HFE gene for hemochromatosis;Menardi;Genet Test.,2002

5. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor;Bennett;Nature.,2000

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