Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

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Pavlu H, Elleder M

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

J Inherit Metab Dis. 1997 Aug;20(4):615-6.

PubMed ID
9266408 [ View in PubMed
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Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sphingomyelin phosphodiesteraseP17405Details