| Title: |
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism |
| Authors: |
Wakeling, Matthew N.; Owens, Nick D. L.; Hopkinson, Jessica R.; Johnson, Matthew B.; Houghton, Jayne A. L.; Dastamani, Antonia; Flaxman, Christine S.; Wyatt, Rebecca C.; Hewat, Thomas I.; Hopkins, Jasmin J.; Laver, Thomas W.; van Heugten, Rachel; Weedon, Michael N.; De Franco, Elisa; Patel, Kashyap A.; Ellard, Sian; Morgan, Noel G.; Cheesman, Edmund; Banerjee, Indraneel; Hattersley, Andrew T.; Dunne, Mark J.; Barić, Ivo; de Vries, Liat; Hassan, Samar S.; Humayun, Khadija Nuzhat; Levy-Khademi, Floris; Limbert, Catarina; Rami-Merhar, Birgit; Mericq, Verónica; Neville, Kristen; Ouarezki, Yasmine; Tangari, Ana; Verge, Charles; Wiltshire, Esko; Richardson, Sarah J.; Flanagan, Sarah E. |
| Source: |
Nature Genetics ; volume 54, issue 11, page 1615-1620 ; ISSN 1061-4036 1546-1718 |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2022 |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1038/s41588-022-01204-x |
| Availability: |
https://doi.org/10.1038/s41588-022-01204-x; https://www.nature.com/articles/s41588-022-01204-x.pdf; https://www.nature.com/articles/s41588-022-01204-x |
| Rights: |
https://www.springer.com/tdm ; https://www.springer.com/tdm |
| Accession Number: |
edsbas.275CC74 |
| Database: |
BASE |