Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

Journal of Medical Genetics

Volumn 43, Issue 12, 2006, Pages 924-930

  Tran, Van Khanh ^a   Takeshima, Yasuhiro ^a   Zhang, Zhujun ^a   Yogi, Mariko ^a   Nishiyama, Atsushi ^a   Habara, Yasuaki ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN;

ARTICLE; BINDING SITE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DYSTROPHINOPATHY; ENHANCER REGION; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IN VIVO STUDY; MALE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SITE DIRECTED MUTAGENESIS;

BASE SEQUENCE; CHILD, PRESCHOOL; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; RNA SPLICE SITES; RNA SPLICING; SEQUENCE DELETION;

EID: 33845674953     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042317     Document Type: Article

References (42)

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