Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

Single gene mutations that primarily affect pancreatic β-cell function account for approximately 1–2% of all cases of diabetes. Overlapping clinical features with common forms of diabetes makes diagnosis of monogenic diabetes challenging. A genetic diagnosis often leads to significant alterations in...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab
Asıl Yazarlar: Alkorta-Aranburu, G., Carmody, D., Cheng, Y.W., Nelakuditi, V., Ma, L., Dickens, Jazzmyne T., Das, S., Greeley, S.A.W., del Gaudio, D.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4756642/
https://ncbi.nlm.nih.gov/pubmed/25306193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.09.007
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