Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

doi:10.1073/pnas.88.9.3748

Back to search

Article

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1991

Levran O, Desnick R J, Schuchman E H

Abstract excerpt

Although the A and B subtypes of Niemann-Pick disease (NPD) both result from the deficient activity of acid sphingomyelinase (ASM; sphingomyelin cholinephosphohydrolase, EC 3.1.4.12) and the lysosomal accumulation of sphingomyelin, they have remarkably distinct phenotypes. Type A disease is a fat...

Topics

Base Sequence
Humans
Jews
Molecular Sequence Data
Mutation
Niemann-Pick Diseases
Oligonucleotides
Pedigree
Polymerase Chain Reaction
Sphingomyelin Phosphodiesterase

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.