Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

BACKGROUND: Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM) patients as PCR-based techniques tend to miss gross...

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Autors principals: Bovolenta, Matteo, Neri, Marcella, Martoni, Elena, Urciuolo, Anna, Sabatelli, Patrizia, Fabris, Marina, Grumati, Paolo, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2850895/
https://ncbi.nlm.nih.gov/pubmed/20302629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-44
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