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GNPAT p.D519G variant and iron metabolism during oral iron tolerance test

Rametta, Raffaela ; Dongiovanni, Paola ; Fargion, Silvia ; Valenti, Luca

Hepatology (Baltimore, Md.), January 2017, Vol.65(1), pp.384-385 [Rivista Peer Reviewed]

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GNPAT variant is associated with iron phenotype in healthy Taiwanese women: A population without the HFE C282Y mutation

Hsiao, Shu-Chen ; Lee, Chien-Te ; Pei, Sung-Nan

Hepatology (Baltimore, Md.), June 2016, Vol.63(6), pp.2057-8 [Rivista Peer Reviewed]

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GNPAT polymorphism rs11558492 is not associated with increased severity in a large cohort of HFE p.Cys282Tyr homozygous patients

Tchernitchko, Dimitri ; Scotet, Virginie ; Lefebvre, Thibaud ; L'Hostis, Carine ; Gourlaouen, Isabelle ; Merour, Marie-Christine ; Rebah, Khadidja ; Peoc'H, Katell ; Assari, Suzanne ; Ferec, Claude ; Puy, Hervé ; Le Gac, Gérald

Hepatology (Baltimore, Md.), March 2017, Vol.65(3), pp.1069-1071 [Rivista Peer Reviewed]

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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

Joly, Philippe ; Vignaud, Hélène ; Di Martino, Julie ; Ruiz, Mathias ; Garin, Roman ; Restier, Lioara ; Belmalih, Abdelouahed ; Marchal, Christelle ; Cullin, Christophe ; Arveiler, Benoit ; Fergelot, Patricia ; Gitler, Aaron D ; Lachaux, Alain ; Couthouis, Julien ; Bouchecareilh, Marion

PloS one, 2017, Vol.12(6), pp.e0179369 [Rivista Peer Reviewed]

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Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Laberge, Anne-Marie

Genetics in medicine : official journal of the American College of Medical Genetics, April 2018, Vol.20(4), pp.400-402 [Rivista Peer Reviewed]

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Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis

Hamdi-Rozé, Houda ; Beaumont-Epinette, Marie-Pascale ; Ben Ali, Zeineb ; Le Lan, Caroline ; Loustaud-Ratti, Véronique ; Causse, Xavier ; Loreal, Olivier ; Deugnier, Yves ; Brissot, Pierre ; Jouanolle, Anne-Marie ; Bardou-Jacquet, Edouard

American journal of hematology, December 2016, Vol.91(12), pp.1202-1205 [Rivista Peer Reviewed]

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Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists

Press, Richard D ; Eickelberg, Garrett ; Mcdonald, Thomas J ; Halley, Jaimie ; Long, Thomas ; Tafe, Laura J ; Weck, Karen E

Genetics in medicine : official journal of the American College of Medical Genetics, December 2016, Vol.18(12), pp.1206-1213 [Rivista Peer Reviewed]

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Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the Gene

Luszczyk, Marcin ; Kaczorowska-Hac, Barbara ; Milosz, Ewa ; Adamkiewicz-Drozynska, Elzbieta ; Ziemann, Ewa ; Laskowski, Radoslaw ; Flis, Damian ; Rokicka-Hebel, Magdalena ; Antosiewicz, Jedrzej

BioMed research international, 2017, Vol.2017, pp.5313914 [Rivista Peer Reviewed]

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HFE mRNA expression is responsive to intracellular and extracellular iron loading: short communication

Mehta, Kosha J ; Farnaud, Sebastien ; Patel, Vinood B

Molecular biology reports, October 2017, Vol.44(5), pp.399-403 [Rivista Peer Reviewed]

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R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis

Henninger, B ; Rauch, S ; Zoller, H ; Plaikner, M ; Jaschke, W ; Kremser, C

European journal of radiology, April 2017, Vol.89, pp.149-155 [Rivista Peer Reviewed]

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