Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1994-05-27
1997-11-11
Zitomer, Stephanie W.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 911, 435 912, 435810, 536 232, 536 2433, 536 2431, C12Q 168, C12P 1934, C07H 2104, C07H 2102
Patent
active
056862407
ABSTRACT:
The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase, the cloning and characterization of the genomic structure of the acid sphingomyelinase gene, and on the discovery of frequent mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.
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Desnick Robert J.
Schuchman Edward H.
Mount Sinai School of Medicine of the City University of New Yor
Tran Paul B.
Zitomer Stephanie W.
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