A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Issue 10 (22nd March 2022)
- Record Type:
- Journal Article
- Title:
- A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Issue 10 (22nd March 2022)
- Main Title:
- A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
- Authors:
- 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 - Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 59:Issue 10(2022)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 59:Issue 10(2022)
- Issue Display:
- Volume 59, Issue 10 (2022)
- Year:
- 2022
- Volume:
- 59
- Issue:
- 10
- Issue Sort Value:
- 2022-0059-0010-0000
- Page Start:
- 1024
- Page End:
- 1026
- Publication Date:
- 2022-03-22
- Subjects:
- allelic imbalance -- DNA repeat expansion -- neuromuscular diseases -- sequence analysis, DNA -- human genetics
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmedgenet-2021-108281 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 23965.xml