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Mval polymorphism in the proteolipid protein (PLP) gene

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Abstract

We report a rare polymorphism in the human proteolipid protein (PLP) gene. A synonymous mutation, 168 A→G, was detected in exon 2 of the PLP gene. Mutations in this gene have been reported in some cases of Pelizaeus-Merzbacher disease.

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References

  • Pham-Dinh D, Popot J-L, Boespflug-Tanguy O, Landrieu P, Deleuze J-F, Boue J, Jolles P, Dautigny A (1991) PelizaeusMerzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci USA 88:7562–7566

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Authors and Affiliations

  1. Department of Pediatrics, School of Medicine, Urafune Hospital of Yokohama City University, 3-46 Urafune-cho, Minami ku, 232, Yokohama, Japan

    Hitoshi Osaka, Atsuo Nezu & Seiji Kimura

  2. Department of Psychiatry, Yokohama City University School of Medicine, Yokohama, Japan

    Ken Inoue, Chiaki Kawanishi, Yoshiteru Yamada, Hideki Onishi, Naoya Sugiyama, Kyoko Suzuki & Kenji Kosaka

Authors
  1. Hitoshi Osaka
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  2. Ken Inoue
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  3. Chiaki Kawanishi
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  4. Yoshiteru Yamada
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  5. Hideki Onishi
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  6. Naoya Sugiyama
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  7. Kyoko Suzuki
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  8. Atsuo Nezu
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  9. Seiji Kimura
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  10. Kenji Kosaka
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Osaka, H., Inoue, K., Kawanishi, C. et al. Mval polymorphism in the proteolipid protein (PLP) gene. Hum Genet 95, 461 (1995). https://doi.org/10.1007/BF00208978

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  • DOI: https://doi.org/10.1007/BF00208978

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