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  • 1
    Digitale Medien
    Digitale Medien
    Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 486-490 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract A 13-year-old Hungarian boy (B.J. Jr.) with congenital haemolytic anaemia (CHA) and hyperkinetic torsion dyskinesia was found to have severe triose-phosphate isomerase (TPI) deficiency. One of his two brothers (A.J.), a 23-year-old amateur wrestler, has CHA as well, but no neurological symptoms. Both have less than 10% TPI activity and a highly increased dihydroxyacetone phosphate (DHAP) level in their red blood cells. Their TPI had a slow electrophoretic mobility and was heat unstable. Both parents and a third brother are healthy heterozygous carriers of the defect. A.J. represents a unique phenotype from the point of view that all published “homozygotes” had severe neurological alterations from infancy or early childhood except one infant who died at 11 months, probably too young for neurological symptoms to be noted. In contrast to the two affected Hungarian brothers all but one “homozygote” has died before the age of 6 years. The striking difference in the clinical course of the defect between the two brothers with the same severe red blood cell enzyme deficiency may originate from unusual differences between two double heterozygous brothers resulting inter alia in different levels of TPI expression in various tissues. Significantly lower TPI activities were found in both the T- and B-cells of the propositus as compared to the respective cells of the neurologically symptom-free brother.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00216456
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  • 2
    Digitale Medien
    Digitale Medien
    IMMUNOGLOBULIN ALLOTYPES IN HUNGARIAN GYPSIES (1985)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 12 (1985), S. 0 
    Details
    ISSN: 1744-313X
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Biologie , Medizin
    Notizen: The allotypic markers of immunoglobulin heavy chains (Gm, Am and Em allotypes) provide important contributions to the differentiation between populations, and they are informative for tracing racial origin, migration and admixture of isolates and stray groups. The combined Glm; G2m; G3m; A2m; Em haplotypes are a highly polymorphic system that is a powerful tool in population genetics because of the existence of haplotypes that are unique for a particular race. In this paper, data on Gypsies living in Hungary are compared with those obtained in other populations, in particular Hindus and non-Hindus from India. The analysis agrees with anthropological and philological evidence for population movements from Asia to Europe.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1744-313X.1985.tb00840.x
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