Egyptian Journal of Medical Human Genetics is the official journal of The Egyptian Societies of Medical Human Genetics.
In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this study was to collect all PTS gene variants detected among Iranian patients w...