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Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.

Clin. Endocrinol. (Oxf). 2012; 
AlzahraniAli S，ZouMinjing，BaiteiEssa Y，ParharRanjit S，Al-KahtaniNora，RaefHussein，AlmahfouzAbdulraof，AmarteyJohn K，Al-RijjalRoua，HammamiRakad，MeyerBrian F，Al-MohannaFutwan A，ShiY
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Mutagenesis Services … The R118C mutant was reconstructed using the QuikChange XL site‐directed mutagenesis kit (Stratagene, La Jolla, CA, USA) according to the manufacturer's instructions and by GenScript Corporation (Piscataway, NJ, USA) … Get A Quote

摘要

Mutations of the insulin receptor gene (INSR) can cause genetic syndromes associated with severe insulin resistance.

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