Since the first molecular characterization of an FH mutation by Bourgeron et al in 1994 , a series of reports of both FH deficiency patients and patients with MCUL/HLRRC have described 107 variants , of which 93 are thought to be pathogenic .
O O O O O O O B-GeneOrGeneProduct O O O O O O O O O O O O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature B-OrganismTaxon O B-OrganismTaxon O I-DiseaseOrPhenotypicFeature O O O O O O O O O O O O O O