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  • 1
    Electronic Resource
    Electronic Resource
    Mutation analysis of a Japanese patient with fucosidosis (1999)
    Springer
    Journal of human genetics 44 (1999), S. 323-326 
    Details
    ISSN: 1435-232X
    Keywords: Key words Fucosidosis ; Nonsense mutation ; Large deletion ; Japanese patient
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of α-L-fucosidase. Recently, various mutations have been reported in this disease, but it is difficult to elucidate the phenotype from the genetic mutations. We report a patient with chronic infantile type fucosidosis, with a compound heterozygote of a nonsense mutation (W148X, Trp at codon 148 to stop codon) and a large deletion, including all exons. This is the first report of a large deletion demonstrated in fucosidosis. It is interesting that this patient has a relatively mild clinical course despite the absence of the mRNA. This case also indicates the difficulty in determining the phenotype from the genotype in fucosidosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050169
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Effect of permeation temperature on permeation and separation of a benzene/cyclohexane mixture through liquid-crystalline polymer membranes (1998)
    Bognor Regis [u.a.] : Wiley-Blackwell
    Journal of Polymer Science Part B: Polymer Physics 36 (1998), S. 281-288 
    Details
    ISSN: 0887-6266
    Keywords: side-chain liquid-crystalline polymer membrane ; pervaporation ; benzene/cyclohexane mixture ; state-transformation ; benzene permselectivity ; Physics ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: When a benzene/cyclohexane mixture of 10 wt % benzene was permeated through side-chain liquid-crystalline polymer (LCP) membranes by pervaporation at various temperatures, the permeation rate increased with increasing permeation temperature. The LCP membranes also exhibited a benzene permselectivity. The permselectivity for the benzene/cyclohexane mixture through the LCP membrane was different in the glassy, liquid-crystalline, and isotropic states. The LCP membrane had different apparent activation energies for permeation at each state. LCP membrane in the liquid-crystalline state had the highest apparent activation energy of the three states. Results suggest that the benzene permselectivity was influenced by changes in the LCP membrane structure, i.e., a state-transformation. It was found that a balance of the orientation of mesogenic groups and the flexibility of the siloxane chains was very important for benzene permselectivity. © 1998 John Wiley & Sons, Inc. J Polym Sci B: Polym Phys 36: 281-288, 1998
    Additional Material: 7 Ill.
    Type of Medium: Electronic Resource
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    Paper (German National Licenses)
  • 3
    Electronic Resource
    Electronic Resource
    Permeation and separation of benzene/cyclohexane mixtures through liquid-crystalline polymer membranes (1997)
    Bognor Regis [u.a.] : Wiley-Blackwell
    Journal of Polymer Science Part B: Polymer Physics 35 (1997), S. 699-707 
    Details
    ISSN: 0887-6266
    Keywords: side-chain liquid-crystalline polymer ; pervaporation ; benzene/cyclohexane mixtures ; state transformation ; permselectivity ; Physics ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: The side-chain liquid-crystalline polymer (LCP) was synthesized by the addition of the mesogenic monomer to poly(methylsiloxane) with Pt catalyst. When the benzene/cyclohexane mixtures were permeated through the LCP membranes by pervaporation at various temperatures, the permeation rate increased with increasing benzene concentration in the feed solution and permeation temperature. Though the LCP membranes exhibited a benzene permselectivity, a mechanism of the permeation and separation for the benzene/cyclohexane mixtures was different in the glassy, liquid-crystalline and isotropic state of the LCP membranes. These results suggested that the permselectivity was fairly influenced by the change of the LCP membrane structure, that is, a state transformation. It was found that a balance of the orientation of mesogenic groups and flexibility of siloxane chains is very important for the permeability and selectivity. © 1997 John Wiley & Sons, Inc. J Polym Sci B: Polym Phys, 35: 699-707, 1997
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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