A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1-Reference-Cited by-同舟云学术

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A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1

Published:2023-08 Issue:8 Volume:110 Page:1436-1443
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Monfrini Edoardo^ORCID,Pelucchi Sara^ORCID,Hollmén Maija^ORCID,Viitala Miro^ORCID,Mariani Raffaella^ORCID,Bertola Francesca,Majore Silvia^ORCID,Di Fonzo Alessio^ORCID,Piperno Alberto^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities;Aguilar-Martinez;Am. J. Gastroenterol.,2005

2. Towards explaining "unexplained hyperferritinemia";Camaschella;Haematologica,2009

3. Diagnosis of hyperferritinemia in routine clinical practice;Lorcerie;Presse Med.,2017

4. Systemic iron homeostasis and the iron-responsive element/iron-regulatory protein (IRE/IRP) regulatory network;Muckenthaler;Annu. Rev. Nutr.,2008

5. Regulation of ferritin genes and protein;Torti;Blood,2002

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical evaluation of hyperferritinemia with or without iron overload;Journal of Laboratory and Precision Medicine;2024-04

2. Molecular testing in hemochromatosis;Diagnostic Molecular Pathology;2024

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