Article
A novel mutation in exon 5 of the glucokinase gene in an Argentinian family with maturity onset diabetes of the young.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2003
Frechtel Gustavo Daniel, López Ariel Pablo, Rodríguez Martín, Cerrone Gloria Edith, Targovnik Héctor Manuel
Abstract excerpt
Maturity onset diabetes of the young (MODY) is caused by mutations in at least six different genes, including the glucokinase gene (MODY 2) and genes encoding the tissue-specific transcription factors (MODY 1 and MODY 3-6). To determine the presence of mutations in MODY 2 in four members of a family who have the clinical characteristics of MODY, we performed polymerase chain reaction and single strand...
Topics
- Adult
- Amino Acid Sequence
- Argentina
- Base Sequence
- Codon, Terminator
- DNA
- DNA Mutational Analysis
- Diabetes Mellitus, Type 2
- Exons
- Female
- Frameshift Mutation
- Glucokinase
- Humans