A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozy...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Diabetol Metab Syndr
Main Authors: Esquiaveto-Aun, Adriana Mangue, De Mello, Maricilda Palandi, Paulino, Maria Fernanda Vanti Macedo, Minicucci, Walter José, Guerra-Júnior, Gil, De Lemos-Marini, Sofia Helena Valente
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4652399/
https://ncbi.nlm.nih.gov/pubmed/26587058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13098-015-0101-9
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