Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient Full Text
Chinese Medical Journal, 07/05/2012
Yan–yan C et al. – This is the first case of HT1 analyzed by molecular genetics in China. The R237X mutation in FAH down– regulates the fumarylacetoacetate hydrolase (FAH) gene expression, and the L375P mutation perhaps interrupts the secondary structure of FAH protein.