A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria.
O'Brien
M E
ME
Spruson & Ferguson, GPO Box 3898, Sydney, NSW, 2001, Australia.
Weiss
A S
AS
D000483:Alleles; D002874:Chromosome Mapping; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D011371:Progeria / Q000201:enzymology / Q000235:genetics* / Q000401:mortality
D005700:Galactosyltransferases; C119701:beta-1,4-galactosyltransferase I