Work

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.

Year: 2014

Type: article

Study design: Case Report

Source: PubMed

Authors: Hyun-Jung Choi, Hae In Bang, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Mee-Ran Shin, Yong-Wha Lee, Dong Hwan Lee, Hyung-Doo Park

Institutions: Samsung Medical Center, Sungkyunkwan University, Soonchunhyang University, Soonchunhyang University Hospital Seoul, Seoul National University, Seoul National University Bundang Hospital, Hallym University, Hallym University Dongtan Sacred Heart Hospital, Soonchunhyang University Hospital Bucheon

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: closed

OpenAlex ID: W2407765762

FWCI: 0.425

Cites:

Cited by: 3

Related to: 10