Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.
Malecki
Maciej T
MT
Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland. malecki_malecki@yahoo.com
Skupien
Jan
J
Gorczynska-Kosiorz
Sylwia
S
Klupa
Tomasz
T
Nazim
Joanna
J
Moczulski
Dariusz K
DK
Sieradzki
Jacek
J
D017668:Age of Onset; D019943:Amino Acid Substitution; D001786:Blood Glucose / Q000032:analysis; D004247:DNA / Q000032:analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005091:Exons; D005215:Fasting; D005260:Female; D016368:Frameshift Mutation; D005819:Genetic Markers; D005820:Genetic Testing; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011044:Poland / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011859:Radiography; D011877:Radionuclide Imaging; D012042:Registries; D017422:Sequence Analysis, DNA; D011795:Surveys and Questionnaires; D014463:Ultrasonography
D001786:Blood Glucose; D005819:Genetic Markers; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D004247:DNA