تصفح Biomedical Sciences حسب الموضوع "GAlactosemia"
السجلات المعروضة 1 -- 1 من 1
-
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia
( Elsevier , 2019 , Article)Type I galactosemia is a very rare autosomal recessive genetic metabolic disorder that occurs because of the mutations present in the galactose-1-phosphate uridyl transferase (GALT) gene, resulting in a deficiency of the ...