Portal de Periódicos da CAPES

Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

1993; Wiley; Volume: 2; Issue: 4 Linguagem: Inglês

10.1002/humu.1380020414

1098-1004

Orna Levran, Robert J. Desnick, Edward H. Schuchman,

Child Nutrition and Feeding Issues

Human MutationVolume 2, Issue 4 p. 317-319 Mutation in Brief Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients Orna Levran, Corresponding Author Orna Levran Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this authorRobert J. Desnick, Robert J. Desnick Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this authorEdward H. Schuchman, Edward H. Schuchman Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this author Orna Levran, Corresponding Author Orna Levran Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this authorRobert J. Desnick, Robert J. Desnick Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this authorEdward H. Schuchman, Edward H. Schuchman Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029; Fax: 212-360-1809Search for more papers by this author First published: 1993 https://doi.org/10.1002/humu.1380020414Citations: 34AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume2, Issue41993Pages 317-319 RelatedInformation