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Maria Barington

As seen in: Wiley Online Library
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Articles

Novel MYL1 Intron Variant With Expanded Phenotype

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By Maria Barington, Marie Balslev-Harder, Thomas Krag, Camilla Bernt Wulff
| Wiley Online Library Verified
Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Supporting Information Filename Description ajmga70059-sup-0001-Supinfo.docxWord 2007 document , 139.5 KB Data S1: ajmga70059-sup-0001-Supinfo.docx.
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Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome

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By Mads Bak, Kristín Rós Kjartansdóttir, Maria Barington, Ulf Birkedal
| Wiley Online Library Verified
1 INTRODUCTION Alu elements are highly repetitive, short, interspersed elements located throughout the genome in more than one million copies (Lander et al., 2001). Alu elements are approximately 300 bp long and amplified via an RNA intermediate and thereby able to transpose by a copy-and-paste mechanism. Alu elements are the most active retrotransposons in humans and hence contribute to human diversity and in rare cases also human genetic diseases.
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