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

Kevin Uguen; Virginie Scotet; Chandran Ka; Isabelle Gourlaouen; Carine L'hostis; Marie-Christine Merour; Tania Cuppens; Claude Ferec; Gerald Le Gac

doi:10.1002/ajh.24912

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

Am J Hematol. 2017 Dec;92(12):E664-E666. doi: 10.1002/ajh.24912. Epub 2017 Oct 23.

Authors

Kevin Uguen¹, Virginie Scotet^{2

3}, Chandran Ka^{2

4

5}, Isabelle Gourlaouen^{2

3

5}, Carine L'hostis^{2

6}, Marie-Christine Merour³, Tania Cuppens^{1

2}, Claude Ferec^{1

2

3

5}, Gerald Le Gac^{1

2

3

4

5}

Affiliations

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.

PMID: 29084376
DOI: 10.1002/ajh.24912

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Amino Acid Substitution
Female
Hemochromatosis / diagnosis*
Hemochromatosis / genetics*
Hemochromatosis Protein / genetics*
High-Throughput Nucleotide Sequencing*
Humans
Male
Mutation, Missense*
Predictive Value of Tests

Substances

HFE protein, human
Hemochromatosis Protein