a mild form of slc29a3 disorder a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mrna splice variant一种轻微的slc29a3障碍移码删除导致矛盾的翻译非编码的信使rna剪接变体.pdfVIP
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a mild form of slc29a3 disorder a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mrna splice variant一种轻微的slc29a3障碍移码删除导致矛盾的翻译非编码的信使rna剪接变体
A Mild Form of SLC29A3 Disorder: A Frameshift Deletion
Leads to the Paradoxical Translation of an Otherwise
Noncoding mRNA Splice Variant
1 1 2 3 3 1
Alexandre Bolze *, Avinash Abhyankar , Audrey V. Grant , Bhavi Patel , Ruchi Yadav , Minji Byun ,
4 5 6 1,2 2
Daniel Caillez , Jean-Francois Emile , Marc¸al Pastor-Anglada , Laurent Abel , Anne Puel , Rajgopal
3 7 1,2,8
Govindarajan , Loic de Pontual , Jean-Laurent Casanova
1 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America, 2 Laboratory
´
of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM U980, University Paris Descartes, Paris, France,
3 Wilson Pharmacy, Department of Pharmaceutical and Biomedical Sciences, University of Georgia, Athens, Georgia, United States of America, 4 Laboratory of Pathology,
´
Groupe Hospitalier du Havre, Jacques Monod Hospital, Montivilliers, France, 5 EA4340, University Versailles SQY and Ambroise Pare Hospital, APHP, Boulogne, France,
6 Department of Biochemistry and Molecular Biology, Institute of Biomedicine (IBUB), University of Barcelona and National Institute for the Study of Liver and
Gastrointestinal Diseases (CIBER EHD), Barcelona, Spain, 7
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