Cargando…
High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays
BACKGROUND: The use of resequencing microarrays for screening multiple, candidate disease loci is a promising alternative to conventional capillary sequencing. We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group o...
Autores principales: | Denning, Lisa, Anderson, Jennifer A., Davis, Ryan, Gregg, Jeffrey P., Kuzdenyi, Jennifer, Maselli, Ricardo A. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1975473/ https://www.ncbi.nlm.nih.gov/pubmed/17878953 http://dx.doi.org/10.1371/journal.pone.0000918 |
Ejemplares similares
-
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
por: Maselli, Ricardo A., et al.
Publicado: (2010) -
Congenital myasthenic syndromes
por: Finsterer, Josef
Publicado: (2019) -
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
por: Bevilacqua, Jorge A., et al.
Publicado: (2017) -
Congenital myasthenic syndrome in China: genetic and myopathological characterization
por: Zhao, Yawen, et al.
Publicado: (2021) -
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
por: Kothiyal, Prachi, et al.
Publicado: (2010)