Condition: PEROXISOME BIOGENESIS DISORDER 3B


rs144259891 in PEX12 gene and PEROXISOME BIOGENESIS DISORDER 3B PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

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

PMID 14571262 2004 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

PMID 27763634 2017 Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

PMID 11370741 2001 Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import.

PMID 22471590 2012 The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner.

PMID 10837480 2000 Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p.

PMID 10562279 1999 PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.

PMID 20681997 2011 Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

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

PMID 9090384 1997 Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

PMID 27124789 2016 Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.