Associated Papers
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR et al.
Cancer Discovery, 2023
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C et al.
Pharmaceutics, 2022
35631530 (PubMed )
Supplement: pharmaceutics-14-00944-s001.zip › pharmaceutics-1634615-supplementary.pdf
Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.
Franke K et al.
Clinical Case Reports, 2022
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
Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.
Bulku A et al.
The Open Biochemistry Journal, 2018
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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