Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome

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Detalles Bibliográficos
Autores principales: Buhl, Nicole, Pfister, Eva‐Doreen, Bohne, Jens, Baumann, Ulrich, Hartleben, Björn, Schlegelberger, Brigitte, Illig, Thomas, Skawran, Britta, Stalke, Amelie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546130/
https://www.ncbi.nlm.nih.gov/pubmed/35761784
http://dx.doi.org/10.1111/cge.14179
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author Buhl, Nicole
Pfister, Eva‐Doreen
Bohne, Jens
Baumann, Ulrich
Hartleben, Björn
Schlegelberger, Brigitte
Illig, Thomas
Skawran, Britta
Stalke, Amelie
author_facet Buhl, Nicole
Pfister, Eva‐Doreen
Bohne, Jens
Baumann, Ulrich
Hartleben, Björn
Schlegelberger, Brigitte
Illig, Thomas
Skawran, Britta
Stalke, Amelie
author_sort Buhl, Nicole
collection PubMed
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spelling pubmed-95461302022-10-14 Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome Buhl, Nicole Pfister, Eva‐Doreen Bohne, Jens Baumann, Ulrich Hartleben, Björn Schlegelberger, Brigitte Illig, Thomas Skawran, Britta Stalke, Amelie Clin Genet Letters to the Editor [Image: see text] Blackwell Publishing Ltd 2022-06-27 2022-09 /pmc/articles/PMC9546130/ /pubmed/35761784 http://dx.doi.org/10.1111/cge.14179 Text en © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letters to the Editor
Buhl, Nicole
Pfister, Eva‐Doreen
Bohne, Jens
Baumann, Ulrich
Hartleben, Björn
Schlegelberger, Brigitte
Illig, Thomas
Skawran, Britta
Stalke, Amelie
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title_full Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title_fullStr Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title_full_unstemmed Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title_short Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
title_sort functional characterization of a jag1 5'utr variant in a patient with clinically observed alagille syndrome
topic Letters to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546130/
https://www.ncbi.nlm.nih.gov/pubmed/35761784
http://dx.doi.org/10.1111/cge.14179
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