CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

Journal of Human Genetics

Volumn 57, Issue 2, 2012, Pages 92-100

  Salem, Ikhlass Hadj ^a   Hsairi, Ines ^b   Mezghani, Najla ^a   Kenoun, Houda ^a   Triki, Chahnez ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

alternative splicing; Alu element; CAPN3; intronic variant; LGMD2A

Indexed keywords

MESSENGER RNA; MESSENGER RNA PRECURSOR; NUCLEOTIDE;

ADOLESCENT; ADULT; ALU SEQUENCE; ARTICLE; CAPN3 GENE; CHILD; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DISRUPTION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOMICS; HUMAN; HUMAN TISSUE; INTRON; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; RNA SPLICING; TUNISIA;

ADOLESCENT; ALTERNATIVE SPLICING; ALU ELEMENTS; BASE SEQUENCE; CALPAIN; CASE-CONTROL STUDIES; CHILD; CONSANGUINITY; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTAGENESIS, INSERTIONAL; POINT MUTATION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84857778378     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.129     Document Type: Article

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