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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
| Autores principales: | , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554250/ https://www.ncbi.nlm.nih.gov/pubmed/35318247 http://dx.doi.org/10.1136/jmedgenet-2021-108281 |
| _version_ | 1784806650372161536 |
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| author | Høyer, Helle Hilmarsen, Hilde T Sunder-Plassmann, Raute Braathen, Geir J Andersen, Peter M Beetz, Christian Hacker, Sandra Holla, Øystein L Kurth, Ingo Löscher, Wolfgang N Reiter, Simone B C F Rudnik-Schöneborn, Sabine Strand, Linda Windhager, Reinhard Witsch-Baumgartner, Martina Senderek, Jan Auer-Grumbach, Michaela |
| author_facet | Høyer, Helle Hilmarsen, Hilde T Sunder-Plassmann, Raute Braathen, Geir J Andersen, Peter M Beetz, Christian Hacker, Sandra Holla, Øystein L Kurth, Ingo Löscher, Wolfgang N Reiter, Simone B C F Rudnik-Schöneborn, Sabine Strand, Linda Windhager, Reinhard Witsch-Baumgartner, Martina Senderek, Jan Auer-Grumbach, Michaela |
| author_sort | Høyer, Helle |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9554250 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | BMJ Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-95542502022-10-13 A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon Høyer, Helle Hilmarsen, Hilde T Sunder-Plassmann, Raute Braathen, Geir J Andersen, Peter M Beetz, Christian Hacker, Sandra Holla, Øystein L Kurth, Ingo Löscher, Wolfgang N Reiter, Simone B C F Rudnik-Schöneborn, Sabine Strand, Linda Windhager, Reinhard Witsch-Baumgartner, Martina Senderek, Jan Auer-Grumbach, Michaela J Med Genet Diagnostics BMJ Publishing Group 2022-10 2022-03-22 /pmc/articles/PMC9554250/ /pubmed/35318247 http://dx.doi.org/10.1136/jmedgenet-2021-108281 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Diagnostics Høyer, Helle Hilmarsen, Hilde T Sunder-Plassmann, Raute Braathen, Geir J Andersen, Peter M Beetz, Christian Hacker, Sandra Holla, Øystein L Kurth, Ingo Löscher, Wolfgang N Reiter, Simone B C F Rudnik-Schöneborn, Sabine Strand, Linda Windhager, Reinhard Witsch-Baumgartner, Martina Senderek, Jan Auer-Grumbach, Michaela A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title | A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title_full | A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title_fullStr | A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title_full_unstemmed | A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title_short | A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon |
| title_sort | polymorphic at-repeat causes frequent allele dropout for an mme mutational hotspot exon |
| topic | Diagnostics |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554250/ https://www.ncbi.nlm.nih.gov/pubmed/35318247 http://dx.doi.org/10.1136/jmedgenet-2021-108281 |
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