Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

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P248

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

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http://www.wikidata.org/entity/Q41009129

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

@en

type

Item

label

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

@en

prefLabel

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

@en

P1476

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

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P2093

C Maxit

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D Marchione

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G Agosta

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H R Waterham

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I Denzler

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J Koster

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R J A Wanders

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S Ferdinandusse

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P2860

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

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

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

Peroxisomal disorders: clinical, biochemical, and molecular aspects.

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

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.

Molecular and neurologic findings of peroxisome biogenesis disorders.

Mutations in PEX10 are a cause of autosomal recessive ataxia.

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

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

P304

71-75

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P31

scholarly article

P356

10.1007/8904_2016_10

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P478

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2016-08-25T00:00:00Z

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27557811

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P932

5509555

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Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

about

P248

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932