A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers

X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by defects in the gene for the adenosine triphos...

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Pubblicato in:Genes (Basel)
Autori principali: Campopiano, Rosa, Femiano, Cinzia, Chiaravalloti, Maria Antonietta, Ferese, Rosangela, Centonze, Diego, Buttari, Fabio, Zampatti, Stefania, Fanelli, Mirco, Amatori, Stefano, D’Alessio, Carmelo, Giardina, Emiliano, Fornai, Francesco, Biagioni, Francesca, Storto, Marianna, Gambardella, Stefano
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8160645/
https://ncbi.nlm.nih.gov/pubmed/34069712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050775
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