Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers-Reference-Cited by-同舟云学术

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Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers

Published:2023-03-17 Issue:6 Volume:98 Page:
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:American J Hematol

Author:

Pinto Valeria Maria¹^ORCID,Russo Roberta²³^ORCID,Quintino Sabrina¹,Rosato Barbara Eleni²³,Marra Roberta²³,Del Giudice Federica³,Mogni Massimo⁴,Maffei Massimo⁴,Iolascon Achille²³^ORCID,Forni Gian Luca¹^ORCID,Andolfo Immacolata²³^ORCID

Affiliation:

1. Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro Ente Ospedaliero Ospedali Galliera Genoa Italy

2. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università degli Studi di Napoli ‘Federico II’ Naples Italy

3. CEINGE Biotecnologie Avanzate Franco Salvatore Naples Italy

4. Laboratorio di Genetica Umana Istituto Giannina Gaslini Genoa Italy

Funder

European Hematology Association

University of Naples Federico II

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.26901

Reference7 articles.

1. β-Thalassemias

2. Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

3. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

4. Hereditary xerocytosis due to mutations in PIEZO1 gene associated with heterozygous pyruvate kinase deficiency and beta‐thalassemia trait in two unrelated families;Fermo E;Case Rep Hematol,2017

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