title: 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.
authors.affiliation: Department of Experimental and Diagnostic Medicine - Section of Medical Genetics, University of Ferrara, Ferrara, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Bovolenta
authors.forename: Marcella
authors.initials: M
authors.lastname: Neri
authors.forename: Elena
authors.initials: E
authors.lastname: Martoni
authors.forename: Anna
authors.initials: A
authors.lastname: Urciuolo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Marina
authors.initials: M
authors.lastname: Fabris
authors.forename: Paolo
authors.initials: P
authors.lastname: Grumati
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonaldo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D024142:Collagen Type VI / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D017353:Gene Deletion; D018628:Gene Dosage; D018740:Genetic Heterogeneity; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007438:Introns; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype
chemical_list: C504344:COL6A2 protein, human; D024142:Collagen Type VI