Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy)

Hormone Research

Volumn 52, Issue 5, 1999, Pages 211-220

  Vorwerk, Peter ^a,b   Christoffersen, Claus T ^b   Müller, Jørn ^d   Vestergaard, Henrik ^c   Pedersen, Oluf ^c   De Meyts, Pierre ^b  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b HAGEDORN RESEARCH INSTITUTE   (Denmark)

^c STENO DIABETES CENTER   (Denmark)

^d Rigshospitalet   (Denmark)

Author keywords

Congenital fiber type disproportion myopathy; Diabetes mellitus; Donor splice site mutation; Exon skipping; Insulin receptor; Tyrosine kinase

Indexed keywords

COMPLEMENTARY DNA; INSULIN RECEPTOR; PROTEIN TYROSINE KINASE; RECEPTOR SUBUNIT;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CELL TRANSFORMATION; DIABETES MELLITUS; EPSTEIN BARR VIRUS; EXON; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INSULIN RESISTANCE; LYMPHOCYTE; MALE; MISSENSE MUTATION; MYOPATHY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD;

EID: 0033497649     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023464     Document Type: Article

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