Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

Types A and B Niemann-Pick disease both result from the deficient activity of the lysosomal hydrolase, acid sphingomyelinase (E.C. 3.1.4.12). Type A Niemann-Pick disease is a severe neurodegenerative disorder of infancy which leads to death by three years of age, whereas Type B disease has a later a...

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Bibliographische Detailangaben
Hauptverfasser: Levran, O, Desnick, R J, Schuchman, E H
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1991
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC295465/
https://ncbi.nlm.nih.gov/pubmed/1885770
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