A Large Family with p.Arg554His Mutation in
ABCD1
X-linked adrenoleukodystrophy
diagnosis
neurogenetics
next generation sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
19 05 2021
19 05 2021
Historique:
received:
19
04
2021
revised:
13
05
2021
accepted:
18
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
26
8
2021
Statut:
epublish
Résumé
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 triphosphate (ATP)-binding cassette protein, subfamily D (
Identifiants
pubmed: 34069712
pii: genes12050775
doi: 10.3390/genes12050775
pmc: PMC8160645
pii:
doi:
Substances chimiques
ABCD1 protein, human
0
ATP Binding Cassette Transporter, Subfamily D, Member 1
0
Types de publication
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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