Variant: rs104894572 

    present in Gene: GALK1
    present in Chromosome: 17
    Position on Chromosome: 75765055
    Alleles of this Variant: G/A;T

rs104894572 in GALK1 gene and Deficiency of galactokinase PMID 12694189 2003 Functional analysis of disease-causing mutations in human galactokinase.

PMID 11231902 2001 "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."

PMID 10521295 1999 A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

PMID 10790206 2000 Novel mutations in 13 probands with galactokinase deficiency.

PMID 15024738 2004 Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

PMID 21290184 2011 Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

PMID 12647253 2003 [Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].

PMID 11978884 2002 The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.

PMID 11978883 2002 An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

PMID 11139256 2001 Novel mutations in the GALK1 gene in patients with galactokinase deficiency.