Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

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Schuchman EH

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

Hum Mutat. 1995;6(4):352-4.

PubMed ID
8680412 [ View in PubMed
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Abstract

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Polypeptides
NameUniProt ID
Sphingomyelin phosphodiesteraseP17405Details