Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene

Title
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene
Authors
Keywords
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Journal
GENE
Volume 524, Issue 2, Pages 403-406
Publisher
Elsevier BV
Online
2013-04-22
DOI
10.1016/j.gene.2013.03.026

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