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• W2078971546 abstract "Human MutationVolume 4, Issue 4 p. 291-293 Mutation in Brief Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease) Maryann L. Huie, Maryann L. Huie New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorRochelle Hirschhorn, Corresponding Author Rochelle Hirschhorn New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016Search for more papers by this authorAgnes S. Chen, Agnes S. Chen New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorFrank Martiniuk, Frank Martiniuk New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorNan Zhong, Nan Zhong New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this author Maryann L. Huie, Maryann L. Huie New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorRochelle Hirschhorn, Corresponding Author Rochelle Hirschhorn New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016Search for more papers by this authorAgnes S. Chen, Agnes S. Chen New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorFrank Martiniuk, Frank Martiniuk New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this authorNan Zhong, Nan Zhong New York University Medical Center, Department of Medicine, Division of Medical Genetics, New York, New York 10016 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314; Fax: 212-263-7151Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380040410Citations: 11AboutPDF 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 Volume4, Issue41994Pages 291-293 RelatedInformation" @default.
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