Article
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Human mutation - 1 Jan 1999
Tyfield L, Reichardt J, Fridovich-Keil J, Croke D T, Elsas L J, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda M D
Abstract excerpt
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes were recorded in 24 different populations and ethnic groups in 15 countries worldwide. The mutations most frequently...
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