Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

@article{Takahashi1992IdentificationOA,
  title={Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.},
  author={Toshiyuki Takahashi and Robert J Desnick and Goro Takada and Edward H Schuchman},
  journal={Human mutation},
  year={1992},
  volume={1 1},
  pages={70-1}
}

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