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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

Kathrine Bjørgo1, Roar Fjær1, Hanne Håberg Mørk1

  • 1Department of Medical Genetics, Oslo University Hospital, P.B 4956 Nydalen, 0424 Oslo, Norway.

Molecular Genetics and Metabolism
|July 5, 2017
PubMed

Keywords:
Cryptic splice sitePEX genesPEX3Peroxisomal biogenesis disorderZellweger spectrum disorderZellweger syndrome

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