Article
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Molecular medicine (Cambridge, Mass.) - 1 Jan 2000
Desnick Jonathan P, Kim Jungmin, He Xingxuan, Wasserstein Melissa P, Simonaro Calogera M, Schuchman Edward H
Abstract excerpt
Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. Here we report the identification, characterization and genotype/phenotype correlations of eight novel mutations in six unrelated NPD patients. These mutations included seven missense mutations: c.631T>C (p.W211R), c.757G>C (p.D253H),...
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