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
M
Department of Experimental and Diagnostic Medicine - Section of Medical Genetics, University of Ferrara, Ferrara, Italy.
Neri
Marcella
M
Martoni
Elena
E
Urciuolo
Anna
A
Sabatelli
Patrizia
P
Fabris
Marina
M
Grumati
Paolo
P
Mercuri
Eugenio
E
Bertini
Enrico
E
Merlini
Luciano
L
Bonaldo
Paolo
P
Ferlini
Alessandra
A
Gualandi
Francesca
F
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
C504344:COL6A2 protein, human; D024142:Collagen Type VI