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_COSMIC
Chemical chaperones curcumin and 4-phenylbutyric acid improve secretion of mutant factor H R127H by fibroblasts from a factor H-deficient patient.
Albuquerque JA et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
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