Variant: rs1184406839 

    present in Gene: GALK1;ITGB4
    present in Chromosome: 17
    Position on Chromosome: 75758085
    Alleles of this Variant: C/G

rs1184406839 in GALK1;ITGB4 gene and Deficiency of galactokinase PMID 15024738 2004 Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

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

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

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

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

PMID 12694189 2003 Functional analysis of disease-causing mutations in human galactokinase.