title: Two Caucasian families with the hepatocyte nuclear factor-1alpha mutation Tyr218Cys.
abstract: We report on the first two Caucasian families with the MODY3 HNF-1alpha mutation Tyr218Cys. Clinical and laboratory examinations are shown in detail. Patients with HNF-1alpha related MODY may develop the full spectrum of diabetic complications. Therefore, early detection of family members with MODY3 is warranted.
authors.affiliation: Diabetes Research Institute and Academical Hospital Munich-Schwabing, Munich, Germany. Michael.Hummel@lrz.uni-muenchen.de
authors.forename: M
authors.initials: M
authors.lastname: Hummel
authors.forename: F
authors.initials: F
authors.lastname: Vasseur
authors.forename: C
authors.initials: C
authors.lastname: Mathieu
authors.forename: C
authors.initials: C
authors.lastname: Bellanne-Chantelot
authors.forename: P
authors.initials: P
authors.lastname: Froguel
authors.forename: E
authors.initials: E
authors.lastname: Standl
authors.forename: M
authors.initials: M
authors.lastname: Füchtenbusch
mesh_terms: D000293:Adolescent; D000328:Adult; D048909:Diabetes Complications / Q000235:genetics* / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000378:metabolism; D005190:Family; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D044465:White People
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha