Identification of a common PEX1 mutation in Zellweger syndrome.

@article{Collins1999IdentificationOA,
  title={Identification of a common PEX1 mutation in Zellweger syndrome.},
  author={Connie Collins and Stephen J. Gould},
  journal={Human mutation},
  year={1999},
  volume={14 1},
  pages={
          45-53
        }
}
The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes. Cell fusion complementation studies demonstrated that these diseases are genetically heterogeneous, with two-thirds of all patients lying within a single complementation group, CG1. Molecular genetic and cell biology studies have shown that PEX1 is deficient in many CG1… CONTINUE READING
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