A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

BMC Genomics

Volumn 9, Issue , 2008, Pages

  Bovolenta, Matteo ^a,b   Neri, Marcella ^a,b   Fini, Sergio ^a,b   Fabris, Marina ^a,b   Trabanelli, Cecilia ^a,b   Venturoli, Anna ^a,b   Martoni, Elena ^a,b   Bassi, Elena ^a,b   Spitali, Pietro ^a,b   Brioschi, Simona ^a,b   Falzarano, Maria S ^a,b   Rimessi, Paola ^a,b   Ciccone, Roberto ^c   Ashton, Emma ^d   McCauley, Joanne ^d   Yau, Shu ^d   Abbs, Stephen ^d   Muntoni, Francesco ^e   Merlini, Luciano ^a,b   Gualandi, Francesca ^a,b   Ferlini, Alessandra ^a,b   more..

^a UNIVERSITY OF FERRARA   (Italy)

^b UO Genetica Medica St Anna Hospital   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RNA; DMD PROTEIN, HUMAN; DYSTROPHIN; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA MICROARRAY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MALE; MENTAL DEFICIENCY; REAL TIME POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE ANALYSIS; GENE DOSAGE; GENETICS; MUSCULAR DYSTROPHY; MUTATION;

3' UNTRANSLATED REGIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DYSTROPHIN; GENE DOSAGE; GENE REARRANGEMENT; HUMANS; INTRONS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 58149284049     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-9-572     Document Type: Article

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