When a mid-intronic variation of DMD gene creates an ESE site

Neuromuscular Disorders

Volumn 24, Issue 12, 2014, Pages 1111-1117

  Trabelsi, Madiha ^a,b   Beugnet, Caroline ^c   Deburgrave, Nathalie ^c   Commere, Virgine ^c   Orhant, Lucie ^c   Leturcq, France ^c   Chelly, Jamel ^c  

^a CHARLES NICOLLE HOSPITAL   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c Institut Cochin   (France)

Author keywords

Becker muscular dystrophy; Dystrophin; ESE site; Mid intronic variation

Indexed keywords

ALPHA SARCOGLYCAN; CIS ACTING ELEMENT; COMPLEMENTARY DNA; DYSTROPHIN; GAMMA SARCOGLYCAN; GENOMIC DNA; MESSENGER RNA; MUSCLE PROTEIN; DMD PROTEIN, HUMAN;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BECKER MUSCULAR DYSTROPHY; BIOINFORMATICS; CASE REPORT; COMPUTER MODEL; CONTROLLED STUDY; DMD GENE; DNA DETERMINATION; DNA SEQUENCE; EXON; EXONIC SPLICING ENHANCER SITE; GENE INSERTION; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; MID INTRONIC VARIATION; MIDDLE AGED; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS; DUCHENNE MUSCULAR DYSTROPHY; GENETICS; PATHOPHYSIOLOGY;

DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; HUMANS; INTRONS; MIDDLE AGED; MUSCULAR DYSTROPHY, DUCHENNE; RNA SPLICING; RNA, MESSENGER;

EID: 84919383031     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.07.003     Document Type: Article

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