Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

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Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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Identification of a novel muta ...... ctrum disorder: a case report.

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label

Identification of a novel muta ...... ctrum disorder: a case report.

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prefLabel

Identification of a novel muta ...... ctrum disorder: a case report.

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P1476

Identification of a novel muta ...... ctrum disorder: a case report.

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P2093

Jorge Asin-Cayuela

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Julia Lindgren

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Karin Ahlberg

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Maria Blomqvist

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Sacha Ferdinandusse

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P2860

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

Allosteric regulation of E2:E3 interactions promote a processive ubiquitination machine

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

Pex10p functions as an E3 ligase for the Ubc4p-dependent ubiquitination of Pex5p.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

Ubiquitin-binding domains

Peroxisomal protein translocation.

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Genetics and molecular basis of human peroxisome biogenesis disorders.

P2888

s13256-017-1365-5

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218

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scholarly article

case report

P356

10.1186/S13256-017-1365-5

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P407

English

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P478

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P577

2017-08-08T00:00:00Z

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P6179

1091085044

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28784167

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P932

5547663

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