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

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 characte...

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Detalles Bibliográficos
Autores principales: Chen, Jiao, Sun, Junhui, Li, Xuefang, Du, Mengmeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719145/
https://www.ncbi.nlm.nih.gov/pubmed/36463171
http://dx.doi.org/10.1186/s12920-022-01406-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719145/
https://www.ncbi.nlm.nih.gov/pubmed/36463171
http://dx.doi.org/10.1186/s12920-022-01406-6

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