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A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease

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Authors and Affiliations

  1. Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan

    Min-Yu Lan, Ying-Fa Chen & Cheng-Huei Peng

  2. Department of Internal Medicine, Division of Hematology–Oncology, Veterans General Hospital—Kaohsiung, Kaohsiung, Taiwan

    Shyh-Jer Lin

  3. Department of Biomedical Sciences, Chung Shan Medical University, 110, Sec.1, Jianguo North Road, Taichung City, 402, Taiwan

    Yu-Fan Liu

Authors
  1. Min-Yu Lan
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  2. Shyh-Jer Lin
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  3. Ying-Fa Chen
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  4. Cheng-Huei Peng
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  5. Yu-Fan Liu
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Corresponding author

Correspondence to Yu-Fan Liu.

Additional information

M.-Y. Lan and S.-J. Lin contributed equally to this paper.

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Lan, MY., Lin, SJ., Chen, YF. et al. A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease. Ann Hematol 88, 695–697 (2009). https://doi.org/10.1007/s00277-008-0648-8

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  • DOI: https://doi.org/10.1007/s00277-008-0648-8

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