Article
Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Diabetes - 1 Oct 2014
Simaite Deimante, Kofent Julia, Gong Maolian, Rüschendorf Franz, Jia Shiqi, Arn Pamela, Bentler Kristi, Ellaway Carolyn, Kühnen Peter, Hoffmann Georg F, Blau Nenad, Spagnoli Francesca M, Hübner Norbert, Raile Klemens
Abstract excerpt
Mutations in several genes cause nonautoimmune diabetes, but numerous patients still have unclear genetic defects, hampering our understanding of the development of the disease and preventing pathogenesis-oriented treatment. We used whole-genome sequencing with linkage analysis to study a consanguineous family with early-onset antibody-negative diabetes and identified a novel deletion in PCBD1 (pterin-4...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.