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Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Atsumi Tsuji-HosokawaKei TakasawaRisa NomuraYuichi MiyakawaChikahiko NumakuraAtsushi HijikataTsuyoshi ShiraiYoshihiro OgawaKenichi KashimadaTomohiro Morio
Published in: Pediatric diabetes (2017)
Our study indicates that the 2 missense mutations of INSR , Gly1146Arg, and Ser98Arg, are responsible for insulin resistance, and, suggests that mutations not contained within INSR , but leading to decreased INSR expression should be considered for the patients who show insulin resistance without any mutations in the coding sequence of INSR.
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