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Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G

医学遗传学 人类遗传学 医学 遗传学 生物 基因
作者
A. Kemal Topaloğlu,Claude Sansaricq,Joyce E. Fox,A. Bale,M Tuchman,R J Desnick
出处
期刊:Journal of Inherited Metabolic Disease [Wiley]
卷期号:22 (1): 82-83 被引量:1
标识
DOI:10.1023/a:1005411601985
摘要

Journal of Inherited Metabolic DiseaseVolume 22, Issue 1 p. 82-83 Article Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G A. K. Topaloglu, A. K. Topaloglu Department of Human Genetics, Mount Sinai Medical Center, New York, USASearch for more papers by this authorC. Sansaricq, C. Sansaricq Departments of Human Genetics, USA Pediatrics, Mount Sinai Medical Center, New York, USASearch for more papers by this authorJ. E. Fox, J. E. Fox Department of Pediatrics, Schneider Children's Hospital, Long Island Jewish Hospital, New Hyde Park, New York, USASearch for more papers by this authorA. E. Bale, A. E. Bale Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USASearch for more papers by this authorM. Tuchman, M. Tuchman Department of Pediatrics and Laboratory Medicine, University of Minnesota Medical School, Minneapolis, Minnesota, USASearch for more papers by this authorR. J. Desnick, R. J. Desnick Department of Human Genetics, Mount Sinai Medical Center, New York, USA Departments of Human Genetics, USASearch for more papers by this author A. K. Topaloglu, A. K. Topaloglu Department of Human Genetics, Mount Sinai Medical Center, New York, USASearch for more papers by this authorC. Sansaricq, C. Sansaricq Departments of Human Genetics, USA Pediatrics, Mount Sinai Medical Center, New York, USASearch for more papers by this authorJ. E. Fox, J. E. Fox Department of Pediatrics, Schneider Children's Hospital, Long Island Jewish Hospital, New Hyde Park, New York, USASearch for more papers by this authorA. E. Bale, A. E. Bale Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USASearch for more papers by this authorM. Tuchman, M. Tuchman Department of Pediatrics and Laboratory Medicine, University of Minnesota Medical School, Minneapolis, Minnesota, USASearch for more papers by this authorR. J. Desnick, R. J. Desnick Department of Human Genetics, Mount Sinai Medical Center, New York, USA Departments of Human Genetics, USASearch for more papers by this author First published: 01 February 1999 https://doi.org/10.1023/A:1005411601985Citations: 1AboutPDF 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 No abstract is available for this article.Citing Literature Volume22, Issue1February 1999Pages 82-83 RelatedInformation

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