In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports

Volumn 41, Issue 5, 2014, Pages 2865-2874

  Ulzi, Gianna ^a   Sansone, Valeria A ^a   Magri, Francesca ^a   Corti, Stefania ^a   Bresolin, Nereo ^a   Comi, Giacomo P ^a   Lucchiari, Sabrina ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Becker's generalized myotonia; Channelopathy; CLCN1 gene; Minigene; Myotonia congenita

Indexed keywords

COMPLEMENTARY DNA; CREATINE KINASE; GENOMIC DNA; GLYCINE; MESSENGER RNA; VALINE; CHLORIDE CHANNEL; CLC-1 CHANNEL; RNA SPLICING;

ADOLESCENT; ADULT; ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BACKACHE; CASE REPORT; CHILD; CLCN1 GENE; COHORT ANALYSIS; CREATINE KINASE BLOOD LEVEL; DISEASE EXACERBATION; DNA DETERMINATION; DNA SEQUENCE; DNA TRANSCRIPTION; DYSTONIC DISORDER; ELECTROMYOGRAM; EXON; FAMILY HISTORY; FEMALE; GAIT DISORDER; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PROCEDURES; HEK293 CELL LINE; HETEROZYGOSITY; HUMAN; INTRON; MALE; MINIGENE ASSAY; MUSCLE RIGIDITY; MUSCLE STRENGTH; MUSCLE TONE; MUSCLE WEAKNESS; MYOTONIA; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; ORBICULARIS OCULI MUSCLE; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; RNA EXTRACTION; SCHOOL CHILD; SLURRED SPEECH; GENE ORDER; GENETICS; IN VITRO STUDY; MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; CHILD; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE ORDER; HUMANS; IN VITRO TECHNIQUES; MALE; MUTATION; RNA SPLICE SITES; RNA SPLICING; YOUNG ADULT;

EID: 84905676795     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-014-3142-5     Document Type: Article

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