Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

• Główni autorzy: Jiao Chen (Autor), Junhui Sun (Autor), Xuefang Li (Autor), Mengmeng Du (Autor)
• Format: Książka
• Wydane: BMC, 2022-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway. Herein, we describe the clinical features and genetic...