Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder (Q41009129)

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scientific article published on 25 August 2016

Language	Label	Description	Also known as
English	Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder	scientific article published on 25 August 2016

Statements

scholarly article

1 reference

Europe PubMed Central

25 September 2017

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder (English)

1 reference

Europe PubMed Central

25 September 2017

Zellweger spectrum disorder

1 reference

based on heuristic

inferred from title

author name string

C Maxit

1

1 reference

Europe PubMed Central

25 September 2017

I Denzler

2

1 reference

Europe PubMed Central

25 September 2017

D Marchione

3

1 reference

Europe PubMed Central

25 September 2017

G Agosta

4

1 reference

Europe PubMed Central

25 September 2017

J Koster

5

1 reference

Europe PubMed Central

25 September 2017

R J A Wanders

6

1 reference

Europe PubMed Central

25 September 2017

S Ferdinandusse

7

1 reference

Europe PubMed Central

25 September 2017

H R Waterham

8

1 reference

Europe PubMed Central

25 September 2017

publication date

25 August 2016

1 reference

Europe PubMed Central

25 September 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

25 September 2017

34

1 reference

Europe PubMed Central

25 September 2017

71-75

1 reference

Europe PubMed Central

25 September 2017

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Mutations in PEX10 are a cause of autosomal recessive ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Molecular and neurologic findings of peroxisome biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Peroxisomal disorders: clinical, biochemical, and molecular aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

26 September 2017

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

17 June 2018

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

19 August 2018

First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

19 August 2018

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509555

19 August 2018

Identifiers

10.1007/8904_2016_10

1 reference

Europe PubMed Central

25 September 2017

1 reference

Europe PubMed Central

25 September 2017

1 reference

Europe PubMed Central

25 September 2017

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