A study identifies and characterizes novel variants of the FAH gene in patients suspected of having Tyrosinemia Type 1. This research enhances understanding of genetic variations associated with the disease, potentially guiding future diagnostics and treatments.
identification and characterization of novel variants of fumarylacetoacetate hydrolase fah gene in clinically suspected patients of tyrosinemia type 1 tertiary care centre study of north india
Original title: “Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India.”