Transcriptional and translational effects of intronic CAPN3 gene mutations

Human Mutation

Volumn 31, Issue 9, 2010, Pages

  Nascimbeni, Anna Chiara ^a,b   Fanin, Marina ^a,b   Tasca, Elisabetta ^a,b   Angelini, Corrado ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

Author keywords

Calpainopathy; CAPN3; Intronic variants; LGMD2A; Pathogenetic mutations; Splicing

Indexed keywords

CALPAIN 3; MESSENGER RNA;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CONTROLLED STUDY; EXON SKIPPING; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA DEGRADATION; RNA SPLICING; RNA TRANSLATION;

BASE SEQUENCE; CALPAIN; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION; PROTEIN BIOSYNTHESIS; RNA; RNA SPLICING; TRANSCRIPTION, GENETIC;

EID: 77956275990     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21320     Document Type: Article

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