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

Authors :: Antonella Gambale
Barbara Eleni Rosato
Roberta Marra
Gianluca De Rosa
Lucia De Franceschi
Francesco Manna
Antonio Carciati
Achille Iolascon
Roberta Russo
Immacolata Andolfo
Giovanna Tomaiuolo
Andolfo, Immacolata
Manna, Francesco
De Rosa, Gianluca
Rosato, Barbara Eleni
Gambale, Antonella
Tomaiuolo, Giovanna
Carciati, Antonio
Marra, Roberta
De Franceschi, Lucia
Iolascon, Achille
Russo, Roberta
Source :: Haematologica. 103:e94-e97
Publication Year :: 2017
Publisher :: Ferrata Storti Foundation (Haematologica), 2017.

Subjects :: 0301 basic medicine
Genetics
Chemistry
PIEZO1
Hematology
medicine.disease
Phenotype
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
stomatocytosis
Hydrops fetalis
Genetic variation
Dehydrated hereditary stomatocytosis
medicine
Online Only Articles
Stomatocytosis
030215 immunology

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