Functional analyses of HNF1A-MODY variants refine the interpretation of identified sequence variants.

CONCLUSION: Functional evaluation of the HNF1A variants is necessary to better predict the pathogenic effects and to improve the diagnostic interpretation and treatment, particularly in cases where the co-segregation or family history data are not available or where the phenotype is more diverse and overlaps with other types of diabetes. PMID: 32017842 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32017842?dopt=Abstract

Source: The Journal of Clinical Endocrinology and Metabolism - February 3, 2020 Category: Endocrinology Authors: Malikova J, Kaci A, Dusatkova P, Aukrust I, Torsvik J, Vesela K, Kankova PD, Njølstad PR, Pruhova S, Bjørkhaug L Tags: J Clin Endocrinol Metab Source Type: research