Associated Papers
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar
Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.
Bulku A et al.
The Open Biochemistry Journal, 2018
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C et al.
Human Mutation, 2011
Structural basis of fumarate hydratase deficiency.
Picaud S et al.
Journal of Inherited Metabolic Disease, 2011
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Raimundo N et al.
Oncogene, 2009
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Raimundo N et al.
Biochimica Et Biophysica Acta, 2008
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bayley JP et al.
Bmc Medical Genetics, 2008
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