Associated Papers
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2017
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Chacon-Camacho OF et al.
Gene, 2014
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
Yasmeen A et al.
Molecular Vision, 2010
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
Riehman K et al.
The Journal of Biological Chemistry, 2001
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
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