Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

@article{Zhang1999GenomicSA,
  title={Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.},
  author={Zean Zhang and Yasuyuki Suzuki and Nobuyuki Shimozawa and Seiji Fukuda and Asuka Imamura and Toshiro Tsukamoto and Takashi Osumi and Yukio Fujiki and Tadao Orii and Ronald J. A. Wanders and Peter G. Barth and Hugo W. Moser and Barbara C. Paton and Guy T. N. Besley and Naomi Kondo},
  journal={Human mutation},
  year={1999},
  volume={13 6},
  pages={
          487-96
        }
}
The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belonging to complementation group C (group 4 in the United States). We have now clarified the genomic DNA structure of human PEX6 and identified mutations in patients from various ethnic groups. The human PEX6 gene consists of 17 exons and 16 introns… CONTINUE READING

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