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  • 21
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 102-102 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.
    Type of Medium: Electronic Resource
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  • 22
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 789-791 
    ISSN: 1432-1076
    Keywords: Alpha 1-Antitrypsin ; Glycoproteins ; Resuscitation ; Shock ; Liver disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Microheterogeneity of the glycoprotein α1 has been investigated sequentially by high resolution isoelectric focusing in a child with the proteinase inhibitor MS phenotype after near-drowning A band-splitting with additional cathodal fractions exhibited migration from the most cathodic to the anodic positions of the glycoprotein isoforms in the course of postresuscitation disease. The pattern may reflect the time- and stage-dependent hypoxic and post-hypoxic effects on hepatocellular metabolic zonation.
    Type of Medium: Electronic Resource
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  • 23
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 24
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 158 (1999), S. 170-170 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 25
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Isoelectric focusing (IEF) with carrier ampholytes was used for the determination of transferrin C subtypes and transferrin B and D variants in a sample of 1125 unrelated individuals from Southern Germany. The observed TfC allele frequencies were Tf*C1=0.7872, Tf*C2=0.1365, and Tf*C3=0.0675. The rare C subtype C6 was observed twice. A new C subtype, called C10, was observed and identified by IEF with immobilized pH gradients. The rare C subtypes C4 and C8 were also studied by this method. TfB and TfD variants were found with a heterozygous frequency of 1.53%. One new TfD was found which is located between D1 and D2 and therefore named D1-2. Evidence for a Tf null allele was obtained in a child and the putative father; they were considered to be heterozygous for an allele Tf0. The theoretical exclusion rate for paternity examinations was calculated for the Tf system and found to be 17.95%.
    Type of Medium: Electronic Resource
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  • 26
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 90-92 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2 (b = basic), since the position of their bands is located slightly towards the cathode. Whereas Bf Sb2 has, thus far, been found only in a single individual, Bf Sb1 was found in five unrelated persons and in a mother and her child indicating a simple codominant mode of inheritance. The combined frequency of the Bf*Sb alleles was calculated to be 0.0067.
    Type of Medium: Electronic Resource
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  • 27
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 286-288 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Phenotypes of orosomucoid (ORM) in human sera have been analysed by isoelectric focusing and print immunofixation. After neuraminidase treatment the band patterns indicated that the polymorphism of the structural locus ORM1 is controlled by three autosomal codominant alleles. According to the previous nomenclature they were called ORM1*F1, ORM1*F2, and ORM1*S. In a study of 272 unrelated individuals from southern Germany, five of the six expected common ORM1 subtypes were observed. Furthermore, we found three ORM variant phenotypes which have not been reported previously. These variants were characterized by additional bands in a cathodal position. One variant had additional double bands and presumably represents a rare ORM1 variant named ORM1S1. Two variants had additional single bands. They were assigned tentatively to the ORM2 gene locus. While the common gene product of ORM2 may be called ORM2A, the two variants are named ORM2B1 and ORM2B2, respectively. ORM2B1 has, thus far, been found only in a single individual; the variants ORM1S1 and ORM2B2 were found in a father-child pair and a mother-child pair, respectively. The frequency for variants tentatively assigned to the ORM2 locus is very low and was calculated to be 0.0037.
    Type of Medium: Electronic Resource
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  • 28
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 29
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Eine Stichprobe von 97 HIV-1 seropositiven Personen wurde untersucht, darunter befanden sich 34 Patienten mit AIDS, 30 Patienten mit persistierender generalisierter Lymphadenopathie sowie 33 Personen ohne jegliche Symptome, die als “gesund” bezeichnet wurden. In dieser Stichprobe wurden drei genetische Systeme von Plasmaproteinen untersucht: 1. GC, die gruppenspezifische Komponente des Serums, die mit dem Vitamin-D-bindenden Protein (DBP) identisch ist, 2. Orosomukoid, das akute-Phase Protein Orosomukoid, welches auch als Alpha-1-saures Glykoprotein bezeichnet wird und 3. A2HS, das anti-akute-Phase Protein Alpha-2-HS-Glykoprotein. Die Verteilung der Genotypen und der Allele in diesen drei Systemen entsprach bei Patienten mit AIDS und bei HIV-1 seropositiven Personen der Verteilung bei Kontrollgruppen. Ein Zusammenhang zwischen Anfälligkeit für, bzw. Resistenz gegen AIDS und diesen drei genetischen Systemen besteht nicht.
    Notes: Summary In a sample of 97 HIV-1 seropositive persons which comprised 34 patients with AIDS, 30 patients with persistent generalized lymphadenopathy or with AIDS related complex and 33 persons who were without symptoms and called “healthy”, three genetic marker systems were examined: 1) GC, the group-specific component of serum which is identical with the vitamin D binding protein (DBP) of serum, 2) ORM, the acute phase protein orosomucoid = alpha-1-acid glycoprotein of serum, and 3) A2HS, the alpha-2-AS glycoprotein of serum. The distribution of the genotypes and of the alleles in the sample of AIDS patients and of HIV-1/positive persons was not different from the distribution in control groups. An association between susceptibility and/or resistance for AIDS and these genetic marker systems was not observed.
    Type of Medium: Electronic Resource
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  • 30
    Electronic Resource
    Electronic Resource
    Springer
    International journal of legal medicine 101 (1988), S. 99-104 
    ISSN: 1437-1596
    Keywords: Plasminogen (PLG), silent allele ; Paternity testing, plasminogen ; Plasminogen (PLG), stummes Allel ; Vaterschaftsbegutachtung, Plasminogen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Bei Routineuntersuchungen der Vaterschaftsbegutachtung wurde in zwei verschiedenen Fällen eine entgegengesetzte Reinerbigkeit im Plasminogensystem (PLG) gefunden. In einem Fall zeigte das Kind den Phänotyp PLG A und der Putativvater den Typ PLG B. Der angebliche Vater konnte in 25 weiteren blutgruppenserologischen Merkmalsystemen nicht von der Vaterschaft ausgeschlossen werden (biostatistische Wahrscheinlichkeit für die Vaterschaft W〉99.75%). Im anderen Fall wurde eine Inkompatibilität zwischen Mutter und Kind festgestellt. Die PLG-Untersuchung erfolgte mit der isoelektrischen Fokussierung an Neuraminidasebehandelten Serumproben. Bei der immunologischen und funktionellen Detektion war in beiden Fällen das Bandenmuster der betroffenen PLG-Typen geringfügig abgeschwächt. Die Annahme eines stummen Allels im PLG-System wurde durch quantitative Untersuchungen bekräftigt. Für die süddeutsche Bevölkerung wurde eine Allelfrequenz PLG*Q0=0.0013 errechnet. In derselben Stichprobe erwies sich die PLG A3-Variante als polymorph.
    Notes: Summary Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W〉99.75%). In the other case an incompatibility was found in a mother-child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.
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