Dominant Transmission of Insulin Resistance in a Type A Family Resulting From a Heterozygous Nonsense Mutation in the Insulin Receptor Gene and Associated With Decreased mRNA Level and Insulin Binding Sites
Author:
Affiliation:
1. INSERM U.402 Paris, France
2. Second Department of Pediatrics, University of Athens Athens, Greece
Publisher
American Diabetes Association
Subject
Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://journals.org/diabetes/diabetes/article-pdf/46/11/1901/363940/46-11-1901.pdf
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China;BioMed Research International;2021-02-25
2. Impaired insulin signaling in the B10.D2-Hc0 H2d H2-T18c/oSnJ mouse model of complement factor 5 deficiency;American Journal of Physiology-Endocrinology and Metabolism;2019-08-01
3. First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene;Molecular Biology Reports;2016-02-13
4. Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene;Molecular Genetics and Metabolism Reports;2014
5. Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation;Diabetes;2005-06-01
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