Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene

Gene

Volumn 370, Issue 1-2, 2006, Pages 26-33

  Gualandi, F ^a   Rimessi, P ^a   Trabanelli, C ^a   Spitali, P ^a   Neri, M ^a   Patarnello, T ^b   Angelini, C ^b   Yau, S C ^c   Abbs, S ^c   Muntoni, F ^d   Calzolari, E ^a   Ferlini, A ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

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

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Deletion duplication; Dystrophin; Intron breakpoints; Splicing; Transcription

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; COHORT ANALYSIS; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION;

5' FLANKING REGION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; OPEN READING FRAMES; PROTEIN BIOSYNTHESIS; RNA SPLICING; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 33644854652     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.11.002     Document Type: Article

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