Literature DB >> 20591525

Clinical and genetic analysis of the insulin receptor gene in a Chinese patient with extreme insulin resistance.

Guo-Qing Yang1, Bao-An Wang, Wen-Rui Zhao, Wei-Jun Gu, Zhao-Hui Lui, Jing-Tao Dou, Yi-Ming Mu, Ju-Ming Lu.   

Abstract

Several types of mutations in insulin receptor gene have been identified in patients with type A insulin resistance. A 21-year old girl was diagnosed with diabetic retinopathy and cataract after 6 years of uncontrolled diabetes. Three nucleotide substitution mutations were detected, which may be associated with the patient's extreme insulin resistance. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

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Year:  2010        PMID: 20591525     DOI: 10.1016/j.diabres.2010.06.002

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN: 0168-8227            Impact factor:   5.602


  2 in total

1.  Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Authors:  O Ardon; M Procter; T Tvrdik; N Longo; R Mao
Journal:  Mol Genet Metab Rep       Date:  2014-02-11

2.  Treatment and five-year follow-up of type A insulin resistance syndrome: A case report.

Authors:  Yong-Hua Chen; Qing-Qing Chen; Chun-Lin Wang
Journal:  World J Clin Cases       Date:  2022-03-16       Impact factor: 1.337

  2 in total

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