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Alu-element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G. Seu, Matthew M. Heeney, Kejian Zhang, Robert J. Hopkin and Theodosia A. Kalfa. Accepted manuscript online: 30
The molecular mechanisms associated with PC include mutations involving tumor suppressor genes and copy number gains, epigenetic alterations and Through exploration of the unique mutation, we determined an essential role of the last exon of PAX7: in the absence of exon 9 (cells transfected with human PAX7
The American Journal of Human Genetics (AJHG) is owned and controlled by The American Society of Human Genetics (ASHG) and is edited, in conjunction with the publisher, by a AJHG ascribes to the authorship and contributorship guidelines defined by the International Committee of Medical Journal Editors (www.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Wenjuan Zhang, S. Paige Taylor, Hayley A. Ennis, Kimberly N. Forlenza, Ivan Duran, Bing Li, Jorge A. Ortiz Sanchez, Lisette Nevarez, Deborah A. Nickerson, Michael Bamshad, University of Washington Center for Mendelian Genomics,
Video highlight created by Research Square on the newly published paper in Human Mutation paper entitled, "Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications."
Human Mutation. © Wiley Periodicals, Inc. Cover image for Vol. 38 Issue 12. Edited By: Garry R. Cutting. Impact Factor: 4.601. ISI Journal Citation Reports © Ranking: 2016: 30/167 (Genetics & Heredity). Online ISSN: 1098-1004
Founding Co-Editors DR. RICHARD G.H. COTTON (1940-2015) DR. HAIG H. KAZAZIAN, JR. Managing Editor. Dr. Mark H. Paalman Human Mutation Editorial Office John Wiley & Sons, Inc. E-mail: humu@wiley.com. Variation Nomenclature Editor Johan den Dunnen. Advisory Editors. Sir Walter F. Bodmer C. Thomas
Author Guidelines. Online Submission and Peer Review. Aims and Scope. Copyright/Licensing. Criteria for Acceptance. Manuscripts Describing Prediction Methods or Using Such Methods. Mutation Nomenclature Guidelines. Manuscript Submission. Search Engine Optimization for your Paper.
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