Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

European Journal of Medical Genetics

Volumn 58, Issue 4, 2015, Pages 230-234

  Dusatkova, Lenka ^a   Dusatkova, Petra ^a   Vosahlo, Jan ^b   Vesela, Klara ^a   Cinek, Ondrej ^a   Lebl, Jan ^a   Pruhova, Stepanka ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Diabetes; Insulin gene; MODY; Mutation

Indexed keywords

AMINO ACID; C PEPTIDE; CYSTEINE; GLIMEPIRIDE; GLUCOKINASE; GLUTAMATE DECARBOXYLASE; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; INSULIN DETEMIR; METFORMIN; NUCLEOTIDE; PROINSULIN; PROTEIN TYROSINE PHOSPHATASE; SITAGLIPTIN; TOLBUTAMIDE;

ADULT; AGED; ALPHA CHAIN; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY MASS; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DIABETIC RETINOPATHY; DIAGNOSTIC ERROR; DIET THERAPY; DISEASE COURSE; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; GESTATIONAL AGE; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE; GLYCEMIC CONTROL; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN PUMP; INSULIN TREATMENT; INTRON; LASER COAGULATION; MALE; MEDICAL HISTORY; METABOLIC REGULATION; MIDDLE AGED; NEOVASCULARIZATION (PATHOLOGY); NEWBORN DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PATHOGENESIS; PHENOTYPIC VARIATION; PREGNANCY DIABETES MELLITUS; PROMOTER REGION; REMISSION; RESPIRATORY TRACT INFECTION; SELF MONITORING; STRUCTURE ANALYSIS; TEST MEAL; CASE REPORT; DNA SEQUENCE; FAMILY; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; C-PEPTIDE; DIABETES MELLITUS, TYPE 2; FAMILY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INSULIN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84929049308     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.02.004     Document Type: Article

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