Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

Human Mutation

Volumn 30, Issue 5, 2009, Pages

  Martoni, Elena ^a   Urciuolo, Anna ^b   Sabatelli, Patrizia ^c   Fabris, Marina ^a   Bovolenta, Matteo ^a   Neri, Marcella ^a   Grumati, Paolo ^b   D'Amico, Adele ^d   Pane, Marika ^e   Mercuri, Eugenio ^e   Bertini, Enrico ^d   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 BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

COL6A1; COL6A2; Collagen vi; Non canonical splicing mutations; Ullrich congenital muscular dystrophy

Indexed keywords

DINUCLEOTIDE; MESSENGER RNA;

ARTICLE; CHILD; COL6 GENE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENOME; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INTRON; MALE; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COLLAGEN TYPE VI; EXONS; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; INTRONS; MALE; MUSCULAR DYSTROPHIES; MUTATION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION;

EID: 66749094790     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21022     Document Type: Article

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