The Compound Heterozygous Mutations of C.607g>a and C.657delc in the FAH Gene Are Associated with Renal Damage with Hereditary Tyrosinemia Type 1 (HT1)
Molecular Genetics & Genomic Medicine（2022）
关键词
chronic kidney disease,fumarylacetoacetate hydrolase,hereditary tyrosinemia type 1,mutation,whole exome sequencing
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