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Article

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

Human mutation - 1 Jan 1992

Takahashi T, Desnick R J, Takada G, Schuchman E H

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Identifiers

PMID: 1301192
DOI: 10.1002/humu.1380010111

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Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.PMID 1301192Read ↗

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