Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state

Published: 9 July 2024| Version 1 | DOI: 10.17632/cgmb2fjrhs.1
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Description

Images and dataset of densitometric analysis used for the generation of the figure 1 of the paper by Ravasi G, Pelucchi S, Canonico F, Mariani R, Piperno A. Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state. Meta Gene. 2021, 29: 100905. doi.org/10.1016/j.mgene.2021.100905. This paper is associated to the project "Blood-cerebrospinal fluid-barrie defect as gate for targeting by liver-directed ceruloplasmin gene replacement therapy in the rare disease aceruloplasminemia" supported by Italian Ministry of Health, with the grant RF-2018-1236671 to Massimo ALESSIO as principal investigator at the IRCCS-San Raffaele Hospital, Milano, Italy.

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Institutions

Ospedale San Raffaele, Azienda Socio Sanitaria Territoriale di Monza

Categories

Image Database, Image Analysis

Funding

Ministero della Salute

RF-2018-12366471

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