Condition: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)


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.

PMID 11389485 2001 Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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.

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 26594346 2015 Repository of mutations from Oman: The entry point to a national mutation database.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

PMID 27090541 2016 Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21844578 2011 Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

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

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 20952722 2010 Germinal matrix hemorrhage in Zellweger syndrome.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

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

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 28468868 2017 Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

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

PMID 27882258 2016 Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

PMID 10384394 1999 Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

PMID 24503136 2014 The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

PMID 11389485 2001 Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

PMID 27872819 2016 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 26219880 2016 Friedreich Ataxia in Classical Galactosaemia.

PMID 23247051 2013 Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.

rs1057517518 in PEX1;GATAD1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

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

PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

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

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

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

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

rs762679408 in PEX1;RBM48 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs786204704 in RBM48;PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.