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

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

Item
http://www.wikidata.org/entity/Q24307402
Zellweger spectrum disorders: clinical overview and management approachIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersRational diagnostic strategy for Zellweger syndrome spectrum patientsHeimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesPeroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Peroxisomal protein PEX13 functions in selective autophagy.Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Peroxisome biogenesis disorders.
P2860

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

Item
http://www.wikidata.org/entity/Q24307402
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2007年の論文
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2007年学术文章
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2007年學術文章
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A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@ast
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en-gb
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
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type
label
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@ast
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en-gb
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@nl
prefLabel
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@ast
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en-gb
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
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P433
P478
P50
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P5875
P6179
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P1476
A novel PEX12 mutation identif ...... pattern, even at 40 degrees C
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P921