Variant: rs267608179 

    present in Gene: GATAD1;PEX1
    present in Chromosome: 7
    Position on Chromosome: 92494486
    Alleles of this Variant: C/T

rs267608179 in GATAD1;PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

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

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

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

PMID 16141001 2005 Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

PMID 16086329 2005 PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.