Article
Detection of Major Mutations in CFTR, SERPINA1, HFE Genes in Benign Unconjugated Hyperbilirubinemia Phenotype.
Sovremennye tekhnologii v meditsine - 1 Jan 2024
Ivanova A A, Apartseva N E, Kashirina A P, Nemtsova E G, Ivanova Y V, Kruchinina M V, Kurilovich S A, Maksimov V N
Abstract excerpt
The aim of the study was to search for the associations of benign unconjugated hyperbilirubinemia phenotype with rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) mutations of HFE gene, rs113993960 (ΔF508) of CFTR gene, rs28929474 (PIZ), rs17580 (PIS) mutations of SERPINA1 gene. Material and Methods: The study design is case-control. The group with Gilbert's syndrome (GS) phenotype (n=414; mean age -...