Variant: rs121434455 

    present in Gene: PEX1
    present in Chromosome: 7
    Position on Chromosome: 92504812
    Alleles of this Variant: A/G

rs121434455 in PEX1 gene and Infantile Refsum Disease (disorder) PMID 11439091 2001 Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PMID 9539740 1998 Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

rs121434455 in PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 9539740 1998 Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

PMID 9398848 1997 Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

PMID 11439091 2001 Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.