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However receptor autophosphorylation and tyrosine kinase activity toward an exogenous substrate were reduced in partially purified insulin receptors from the proband's lymphocytes that had been transformed by Epstein-Barr virus. The insulin resistance associated with this mutated gene was inherited by the proband from her mother as an apparently autosomal dominant trait. Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes.<\/jats:p>","DOI":"10.1126\/science.2544997","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T21:21:28Z","timestamp":1160083288000},"page":"63-66","source":"Crossref","is-referenced-by-count":84,"title":["Human Diabetes Associated with a Deletion of the Tyrosine Kinase Domain of the Insulin Receptor"],"prefix":"10.1126","volume":"245","author":[{"given":"Masato","family":"Taira","sequence":"first","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Taira","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naotake","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Shimada","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshifumi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azuma","family":"Kanatsuka","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimoshizu National Hospital and Sanatorium, Yotsukaido, Chiba 284, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousuke","family":"Ebina","sequence":"additional","affiliation":[{"name":"Department of Enzyme Genetics, Institute for Enzyme Research, University of Tokushima, Kuramotocho, Tokushima 770, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masamiti","family":"Tatibana","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideichi","family":"Makino","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sho","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Chiba 280, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","first-page":"5759","volume":"78","year":"1981","unstructured":"Bell, G. 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