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PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis
Journal article   Open access   Peer reviewed

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis

Immacolata Andolfo, Francesco Manna, Gianluca De Rosa, Barbara Eleni Rosato, Antonella Gambale, Giovanna Tomaiuolo, Antonio Carciati, Roberta Marra, Lucia De Franceschi, Achille Iolascon, …
Haematologica (Roma), v 103(3), pp e94-e97
01 Mar 2018
PMID: 29191841
url
https://doi.org/10.3324/haematol.2017.180687View
Published, Version of Record (VoR) Open

Abstract

Adult Anemia, Hemolytic, Congenital - genetics Child Genetic Association Studies Genetic Variation Humans Hydrops Fetalis - genetics Ion Channels - genetics Male Pedigree

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Collaboration types
Domestic collaboration
Web of Science research areas
Hematology
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