A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

BACKGROUND: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing. The remaining mutations (about 2%) are thought to be pure intronic rearrangements/mutations or 5'-3�...

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Autors principals: Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2008
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2612025/
https://ncbi.nlm.nih.gov/pubmed/19040728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-9-572
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