Condition: PEROXISOME BIOGENESIS DISORDER 5B


rs267608188 in PEX2 gene and PEROXISOME BIOGENESIS DISORDER 5B PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 1546315 1992 A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 9452066 1998 A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.

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