Lessons from whole-exome sequencing in MODYX families
Research output: Contribution to journal › Journal article › Research › peer-review
We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.
|Journal||Diabetes Research and Clinical Practice|
|Number of pages||3|
|Publication status||Published - Jun 2014|
- Adolescent, Adult, Aged, Diabetes Mellitus, Type 2, Exome, Female, Genome, Human, Hepatocyte Nuclear Factor 1-beta, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Pedigree, Polymorphism, Genetic, Young Adult