Publication
Title
X-linked sideroblastic anemia and ataxia : a new family with identification of a fourth ABCB7 gene mutation
Author
Abstract
X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Language
English
Source (journal)
European journal of paediatric neurology. - London
Publication
London : 2012
ISSN
1090-3798
Volume/pages
16:6(2012), p. 730-735
ISI
000310862800024
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 04.02.2013
Last edited 16.08.2017
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