The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum (Q28293113)

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Liumei Wei

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Ann Moser

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Hugo Moser

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Garry Cutting

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Nancy Braverman

Molecular Genetics and Metabolism

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language of work or name

English

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publication date

November 2004

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published in

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volume

83

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issue

3

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page(s)

252-63

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cites work

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

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Peroxisome biogenesis

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

15542397

1 reference

Consolidated OpenCitations Corpus – April 2017