Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a KCNN4 mutation, five had the recurrent p.Arg352His mutation and one had a new deletion at the exon 7-i...

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Veröffentlicht in:Haematologica
Hauptverfasser: Picard, Véronique, Guitton, Corinne, Thuret, Isabelle, Rose, Christian, Bendelac, Laurence, Ghazal, Kaldoun, Aguilar-Martinez, Patricia, Badens, Catherine, Barro, Claire, Bénéteau, Claire, Berger, Claire, Cathébras, Pascal, Deconinck, Eric, Delaunay, Jacques, Durand, Jean-Marc, Firah, Nadia, Galactéros, Frédéric, Godeau, Bertrand, Jaïs, Xavier, de Jaureguiberry, Jean-Pierre, Le Stradic, Camille, Lifermann, François, Maffre, Robert, Morin, Gilles, Perrin, Julien, Proulle, Valérie, Ruivard, Marc, Toutain, Fabienne, Lahary, Agnès, Garçon, Loïc
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ferrata Storti Foundation 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6669138/
https://ncbi.nlm.nih.gov/pubmed/30655378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2018.205328
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