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

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Lan MY, Lin SJ, Chen YF, Peng CH, Liu YF

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

Ann Hematol. 2009 Jul;88(7):695-7. doi: 10.1007/s00277-008-0648-8. Epub 2008 Dec 3.

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19050888 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sphingomyelin phosphodiesteraseP17405Details