Article
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.
The pharmacogenomics journal - 1 Feb 2015
Artuso R, Provenzano A, Mazzinghi B, Giunti L, Palazzo V, Andreucci E, Blasetti A, Chiuri R M, Gianiorio F E, Mandich P, Monami M, Mannucci E, Giglio S
Abstract excerpt
Identification of the genetic defect underlying early-onset diabetes is important for determining the specific diabetes subtype, which would then permit appropriate treatment and accurate assessment of recurrence risk in offspring. Given the extensive genetic and clinical heterogeneity of the disease, high-throughput sequencing might provide additional diagnostic potential when Sanger sequencing is ineffective....
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