The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

Journal of Medical Genetics

Volumn 45, Issue 10, 2008, Pages 639-646

  Botta, A ^a   Rinaldi, F ^a   Catalli, C ^b   Vergani, L ^c   Bonifazi, E ^b   Romeo, V ^c   Loro, E ^c   Viola, A ^a   Angelini, C ^c   Novelli, G ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE; INSULIN RECEPTOR; MUSCLE CHLORIDE CHANNEL 1 PROTEIN; MUSCLE PROTEIN; MUSCLEBLIND LIKE 1 PROTEIN; MYOTONIC DYSTROPHY PROTEIN KINASE; THYMINE; TROPONIN T; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 1; NUCLEIC ACID STRUCTURE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK FACTOR; RNA ANALYSIS; RNA SPLICING;

ADOLESCENT; ADULT; EXONS; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; RNA SPLICING; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 54049141673     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.058909     Document Type: Article

References (30)

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