title: Clinical and genetic analysis of the insulin receptor gene in a Chinese patient with extreme insulin resistance.
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.
authors.affiliation: Department of Endocrinology, Chinese People's Liberation Army General Hospital, No 28th Fu Xing Road, Beijing 100853, China.
authors.forename: Guo-Qing
authors.initials: GQ
authors.lastname: Yang
authors.forename: Bao-An
authors.initials: BA
authors.lastname: Wang
authors.forename: Wen-Rui
authors.initials: WR
authors.lastname: Zhao
authors.forename: Wei-Jun
authors.initials: WJ
authors.lastname: Gu
authors.forename: Zhao-Hui
authors.initials: ZH
authors.lastname: Lui
authors.forename: Jing-Tao
authors.initials: JT
authors.lastname: Dou
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Mu
authors.forename: Ju-Ming
authors.initials: JM
authors.lastname: Lu
mesh_terms: D000328:Adult; D044466:Asian People; D002386:Cataract / Q000209:etiology / Q000235:genetics; D048909:Diabetes Complications / Q000235:genetics; D003930:Diabetic Retinopathy / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*; D055815:Young Adult
chemical_list: D011972:Receptor, Insulin