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

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Bovolenta, Matteo ^a   Neri, Marcella ^a   Martoni, Elena ^a   Urciuolo, Anna ^b   Sabatelli, Patrizia ^c   Fabris, Marina ^a   Grumati, Paolo ^b   Mercuri, Eugenio ^d   Bertini, Enrico ^e   Merlini, Luciano ^a,f   Bonaldo, Paolo ^b   Ferlini, Alessandra ^a   Gualandi, Francesca ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c CNR   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; COLLAGEN TYPE 6A1; COLLAGEN TYPE 6A2; COLLAGEN TYPE 6A3; COLLAGEN TYPE 6A5; COLLAGEN TYPE 6A6; UNCLASSIFIED DRUG; COL6A2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BETHLEM MYOPATHY; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INHERITANCE; INTRON; MALE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; COHORT ANALYSIS; DNA MICROARRAY; FIBROBLAST; GENE DOSAGE; GENETICS; GENOTYPE; HETEROZYGOTE; IMMUNOHISTOCHEMISTRY; METABOLISM; MIDDLE AGED; MUSCLE DISEASE; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE VI; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FIBROBLASTS; GENE DELETION; GENE DOSAGE; GENETIC HETEROGENEITY; GENOTYPE; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INTRONS; MALE; MIDDLE AGED; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 77952501132     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-44     Document Type: Article

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