Variant: rs118204450 

    present in Gene: FUCA1
    present in Chromosome: 1
    Position on Chromosome: 23845837
    Alleles of this Variant: G/A

rs118204450 in FUCA1 gene and Fucosidase Deficiency Disease PMID 8401503 1993 Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

PMID 10094192 1999 Spectrum of mutations in fucosidosis.

PMID 9039984 1997 Fucosidosis: genetic and biochemical analysis of eight cases.