Diagnosis of gilbert’s syndrome via pyrosequencing in clinical practice

Relevance. Gilbert’s syndrome (GS) is a disease with an autosomal recessive type of inheritance caused by either impaired expression of the UGT1A1 gene, which encodes the isoform of the uridine-5-diphosphate glucuronosyltransferase (UDP-GTA1), or structural modifications of UDP-GTA1. GS is character...

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Bibliographic Details
Main Authors: L. I. Melnikova, L. Yu. Ilchenko, E. A. Dunaeva, M. V. Kozitsyna, O. P. Dribnokhodova, K. O. Mironov
Format: Article
Language:Russian
Published: SINAPS LLC 2019-11-01
Series:Arhivʺ Vnutrennej Mediciny
Subjects:
Online Access:https://www.medarhive.ru/jour/article/view/987