Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population dataResearch in context

Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population dataResearch in context

Summary: Background: Aceruloplasminemia (ACP) is a rare recessive disease caused by loss of ceruloplasmin activity due to pathogenic variants in the ceruloplasmin (CP) gene. ACP causes iron accumulation in various organs, leading to neurodegeneration, anaemia, and diabetes. Estimating ACP prevalenc...

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Bibliographic Details
Main Authors: Nicole Ziliotto, Sara Lencioni, Martina Cirinciani, Alan Zanardi, Massimo Alessio, Giulia Soldà, Eleonora Da Pozzo, Rosanna Asselta, Andrea Caricasole
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:EBioMedicine
Subjects:
Aceruloplasminemia
Ceruloplasmin
Genetic prevalence
Functional analysis
Rare disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396425000696
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http://www.sciencedirect.com/science/article/pii/S2352396425000696

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