Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
Pavlů
H
H
Institute for Inborn Errors of Metabolism, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Elleder
M
M
D000328:Adult; D004247:DNA / Q000032:analysis; D006801:Humans; D008297:Male; D009154:Mutation / Q000502:physiology*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency* / Q000235:genetics
D004247:DNA; D013108:Sphingomyelin Phosphodiesterase