Cargando…
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
|
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 |
Ejemplares similares
-
Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
por: Høyer, Helle, et al.
Publicado: (2014) -
Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”
por: Høyer, Helle, et al.
Publicado: (2015) -
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots
por: Auer-Grumbach, Michaela, et al.
Publicado: (2020) -
Letter to Mme Fidecaro
por: Walcher, T
Publicado: (1985) -
TS-MME Workpackages
por: Vuillemin, V
Publicado: (2006)