Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease

Hum Mol Genet. 1993 Feb;2(2):205-6. doi: 10.1093/hmg/2.2.205.

Authors

O Levran¹, R J Desnick, E H Schuchman

Affiliation

¹ Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.

PMID: 8499909
DOI: 10.1093/hmg/2.2.205

No abstract available

MeSH terms

Base Sequence
DNA Mutational Analysis
Humans
Molecular Sequence Data
Niemann-Pick Diseases / genetics*
Polymerase Chain Reaction
RNA Splicing
Sphingomyelin Phosphodiesterase / genetics*

Substances

Sphingomyelin Phosphodiesterase