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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

✍ Scribed by Ezgu, Fatih; Krejci, Pavel; Wilcox, Wiliam R.

Book ID: 123204902
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 656 KB
Volume: 524
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.03.026

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