Article
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
BMC genomics - 28 Nov 2008
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
Abstract excerpt
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' UTR changes. In order to screen the huge DMD gene for all types of copy number variation mutations we designed a novel...
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