Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

Current protocols in molecular biology

Trends in Biochemical Sciences · 1988 · 4.3K citations

Molecular Biological Method, Natural Sciences, Dna Replication +4

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +6

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Rachel Myerowitz, F C Costigan · Journal of Biological Chemistry · 1988 · 231 citations · Full text

Tay-sachs Disease, Genetics, Pathology +16

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

Edward H. Schuchman, Mariko Suchi, Takayuki Takahashi et al. · Journal of Biological Chemistry · 1991 · 214 citations · Full text

Type 1, Biosynthesis, Cellular Enzymology +15