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Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes

Autor: Le Tertre, Marlène, Ka, Chandran, Raud, Loann, Berlivet, Isabelle, Gourlaouen, Isabelle, Richard, Gaëlle, Uguen, Kévin, Chen, Jian-Min, Férec, Claude, Fichou, Yann, Le Gac, Gérald

Publikováno v: In Blood Cells, Molecules and Diseases March 2021 87

Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection.

Autor: Le Gac, Gérald^1,2 (AUTHOR) gerald.legac@univ-brest.fr.s, Scotet, Virginie¹ (AUTHOR), Gourlaouen, Isabelle^1,2 (AUTHOR), L'Hostis, Carine¹ (AUTHOR), Merour, Marie‐Christine¹ (AUTHOR), Karim, Zoubida² (AUTHOR), Deugnier, Yves³ (AUTHOR), Bardou‐Jacquet, Edouard³ (AUTHOR), Lefebvre, Thibaud² (AUTHOR), Assari, Suzanne⁴ (AUTHOR), Ferec, Claude¹ (AUTHOR)

Publikováno v: Alimentary Pharmacology & Therapeutics. Apr2022, Vol. 55 Issue 8, p1016-1027. 12p. 3 Charts, 3 Graphs.

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Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis

Autor: Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, Dalstein, Véronique, De Mestier, Louis, Degand, Thibault, d'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet d'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Masson, Emmanuelle, Berthet, Stéphanie, Le Gac, Gerald, Le Rhun, Marc, Ka, Chandran, Autret, Sandrine, Gourlaouen, Isabelle, Cooper, David N., Férec, Claude, Chen, Jian-Min

Publikováno v: In Pancreatology August 2023 23(5):507-511