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Journal Articles

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

O Levran, RJ Desnick, EH Schuchman

Blood (1992) 80 (8): 2081–2087.

https://doi.org/10.1182/blood.V80.8.2081.2081

Published: 1992