Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Laurence Bendélac"'
Autor:
Véronique Picard, Corinne Guitton, Isabelle Thuret, Christian Rose, Laurence Bendelac, Kaldoun Ghazal, Patricia Aguilar-Martinez, Catherine Badens, Claire Barro, Claire Bénéteau, Claire Berger, Pascal Cathébras, Eric Deconinck, Jacques Delaunay, Jean-Marc Durand, Nadia Firah, Frédéric Galactéros, Bertrand Godeau, Xavier Jaïs, Jean-Pierre de Jaureguiberry, Camille Le Stradic, François Lifermann, Robert Maffre, Gilles Morin, Julien Perrin, Valérie Proulle, Marc Ruivard, Fabienne Toutain, Agnès Lahary, Loïc Garçon
Publikováno v:
Haematologica, Vol 104, Iss 8 (2019)
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 m
Externí odkaz:
https://doaj.org/article/9ac46b6e28d84c27925f98425e20b6c3
Autor:
Véronique Picard, Corinne Guitton, Lamisse Mansour-Hendili, Bernard Jondeau, Laurence Bendélac, Maha Denguir, Julien Demagny, Valérie Proulle, Frédéric Galactéros, Loic Garçon
Publikováno v:
Frontiers in Physiology, Vol 11 (2021)
Gardos channelopathy (Gardos-HX) or type 2 stomatocytosis/xerocytosis is a hereditary hemolytic anemia due to mutations in the KCNN4 gene. It is rarer than inherited type 1 xerocytosis due to PIEZO1 mutations (Piezo1-HX) and its diagnosis is difficul
Externí odkaz:
https://doaj.org/article/31491852c95e4e7a8d8a25a25a90446b