Condition: PEROXISOME BIOGENESIS DISORDER 2B
rs61752138
in
PEX5
gene and
PEROXISOME BIOGENESIS DISORDER 2B
PMID 7719337
1995 Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
PMID 10462504
1999 Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.