Article
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Molecular genetics and metabolism - 1 Mar 2015
Bennett James T, Vasta Valeria, Zhang Min, Narayanan Jaya, Gerrits Peter, Hahn Si Houn
Abstract excerpt
Genetic sequencing has become a critical part of the diagnosis of certain forms of pancreatic beta cell dysfunction. Despite great advances in the speed and cost of DNA sequencing, determining the pathogenicity of variants remains a challenge, and requires sharing of sequence and phenotypic data between laboratories. We reviewed all diabetes and hyperinsulinism-associated molecular testing done at the Seattle...
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