LIPC, lipase C, hepatic type, 3990

N. diseases: 57; N. variants: 11
Disease: HEPATIC LIPASE DEFICIENCY (disorder) ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation disease BEFREE We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase deficiency. 1883393 1991