Work

[Clinical features and genetic study of four cases of pediatric acute liver failure caused by NBAS gene variants].

Year: 2025

Type: article

Abstract: gene variant has obvious clinical and genetic characteristics, and there is a correlation between genotype and clinical phenotype. The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.

Source: PubMed

DOI: 10.3760/cma.j.cn501113-20240611-00291

Authors: J D Yu, H Zhao, Y H Fang, Y Y Luo, J G Lou, J Chen

Institutions: Children's Hospital of Zhejiang University, Zhejiang University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Natural Science Foundation of China