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  • 1
    Electronic Resource
    Electronic Resource
    Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family (1993)
    Springer
    Diabetologia 36 (1993), S. 433-437 
    Details
    ISSN: 1432-0428
    Keywords: Glucokinase gene ; mutation ; Type 2 (non-insulin-dependent) diabetes mellitus ; polymerase chain reaction ; single stranded conformation polymorphism ; insulin secretion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Mutations were screened for in the glucokinase gene of 25 Japanese patients with Type 2 (non-insulin-dependent) diabetes mellitus. Each exon was scanned by electrophoresis of enzymatically amplified DNA segments under non-denaturing conditions and variants were sequenced. A variant pattern was detected in exon 5 of one patient. Direct sequencing of this exon revealed a single nucleotide substitution in codon 188 (GCT→ACT) of one of two alleles resulting in the mutation of Ala188→Thr, an invariant residue in the sequence of all mammalian glucokinases and hexokinases. This mutation was not found in 40 normal control subjects. The proband had been diagnosed with Type 2 diabetes at the age of 62 years. Four other members of her family have the same mutation and all have Type 2 diabetes or impaired glucose tolerance. The youngest age at diagnosis of Type 2 diabetes in these other members was 13 years, suggesting that her pedigree was maturity-onset diabetes of the young (MODY). All subjects with the Thr188 mutation show a decreased insulin secretory response during oral glucose tolerance testing. Mutations in the glucokinase gene associated with Type 2 diabetes have been previously identified in Caucasian (French and British) subjects. This study indicates that mutations in this gene are also implicated in the development of Type 2 diabetes in Asians. Further studies are required to determine the frequency of mutations in glucokinase among Japanese patients with Type 2 diabetes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00402280
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A case of anti-nuclear antibody negative systemic lupus erythematosus associated with penile ulcer (1993)
    Springer
    Clinical rheumatology 12 (1993), S. 405-409 
    Details
    ISSN: 1434-9949
    Keywords: ANA Negative SLE ; Penile Ulcer ; Lupus Nephritis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report here an old male patient with anti-nuclear antibody (ANA) negative systemic lupus erythematosus (SLE) with active renal disease and penile ulcer. He revealed nephrotic syndrome, malar rash and oral ulcer. SLE was discussed, however both ANA and anti-DNA antibody were persistently negative. A penile ulcer was also observed. He died of acute respiratory distress. Autopsy findings including onion skin lesion in the spleen and haematoxylin body in the kidney resulted in the final diagnosis of SLE. To our knowledge, association of penile ulcer with SLE has not yet been reported. Therefore, the present case is thought to be extremely unusual.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02231589
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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