Biochemical Properties of Human Red Cell Galactose-1-phosphate Uridyl Transferase (UDP Glucose: Alpha-D-galactose-1-phosphate Uridyltransferase E.C.2.7.7.12) from Normal and Mutant Subjects
Overview
Pathology
Authors
Affiliations
A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.
Park H, Kim Y, Park K, Kim J, Song Y, Song J BMC Med Genet. 2009; 10:29.
PMID: 19309526 PMC: 2667498. DOI: 10.1186/1471-2350-10-29.
Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E J Mol Diagn. 2007; 9(5):618-23.
PMID: 17884932 PMC: 2049049. DOI: 10.2353/jmoldx.2007.070027.
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin H, Kirby L, Ng W, Reichardt J Hum Genet. 1994; 93(2):167-9.
PMID: 8112740 DOI: 10.1007/BF00210604.
Russell J, Demars R Biochem Genet. 1967; 1(1):11-24.
PMID: 5610697 DOI: 10.1007/BF00487732.
NADLER H, Chacko C, Rachmeler M Proc Natl Acad Sci U S A. 1970; 67(2):976-82.
PMID: 5289034 PMC: 283301. DOI: 10.1073/pnas.67.2.976.