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 - Bovolenta, Matteo; Neri, Marcella; Martoni, Elena; Urciuolo, Anna; Sabatelli, Patrizia; Fabris, Marina; Grumati, Paolo; Mercuri, Eugenio; Bertini, Enrico; Merlini, Luciano; Bonaldo, Paolo; Ferlini, Alessandra; et al. (BMC medical genetics, 2010)
Keywords: Adolescent; Adult; Alleles; Biomedical and Life Sciences; Biomedicine; Child; Child, Preschool; Cohort Studies; Collagen Type VI - genetics; Comparative Genomic Hybridization; Cytogenetics; DNA microarrays; Female; Fibroblasts - metabolism; Fibroblasts - pathology; Gene Deletion; Gene Dosage; Gene Function; Gene mutations; Genetic aspects; Genetic Heterogeneity; Genotype; Health aspects; Heterozygote; Human Genetics; Humans; Immunohistochemistry; Introns; Male; Middle Aged; Muscle diseases; Muscular Diseases - diagnosis; Muscular Diseases - genetics; Muscular Dystrophies - diagnosis; Muscular Dystrophies - genetics; Mutation; Oligonucleotide Array Sequence Analysis; Phenotype; Research Article; Risk factors; Italy; Club Foot; Comparative Genomic Hybridization; COL6 Gene; Comparative Genomic Hybridization Array; COL6A2 Gene