Detection of Major Mutations in CFTR, SERPINA1, HFE Genes in Benign Unconjugated Hyperbilirubinemia Phenotype
Nucleotide sequence variants rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) of <i>HFE</i> gene, rs113993960 (ΔF508) of <i>CFTR</i> gene, rs28929474 (PIZ), rs17580 (PIS) of <i>SERPINA1</i> gene, or their combinations with rs3064744 of <i>UGT1A1</i> gene were found to have no association with GS.
Authors
- С. А. Курилович
- А. А. Иванова (ORCID: https://orcid.org/0000-0002-9460-6294)
- А. П. Каширина (ORCID: https://orcid.org/0000-0002-1968-9712)
- М. В. Кручинина (ORCID: https://orcid.org/0000-0003-0077-3823)
- E.G. Nemtsova (ORCID: https://orcid.org/0000-0003-1501-6796)
- В. Н. Максимов (ORCID: https://orcid.org/0000-0003-3372-0250)
- Y.V. Ivanova
- N. E. Apartseva
Institutions
- Institute of Cytology and Genetics (RU)
- North-Western State Medical University named after I.I. Mechnikov (RU)
- Life Cycle Engineering (United States) (US)
Publication Details
- Journal
- Sovremennye tehnologii v medicine
- Published
- 2024-08-30
- DOI
- https://doi.org/10.17691/stm2024.16.4.04
- Citations
- 1
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- Russian Science Foundation