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  • 1995-1999  (1)
  • 1950-1954  (4)
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  • 1
    Electronic Resource
    Electronic Resource
    Holes in Crystals (1952)
    [s.l.] : Nature Publishing Group
    Nature 169 (1952), S. 927-928 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] As additional evidence for this mechanism, we wish to report an unusual phenomenon concerning the development of holes in crystals of A1B2, which seems comprehensible only on the basis of a crystal grown by a screw dislocation. That screw dislocations may have been present in these crystals is ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/169927a0
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The crystal structure of decaborane, B10H14 (1950)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 3 (1950), S. 436-455 
    Details
    ISSN: 0001-5520
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0365110X50001270
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The crystal structure of TiB (1954)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 7 (1954), S. 77-80 
    Details
    ISSN: 0001-5520
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0365110X5400014X
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    The crystal structure of Mg6MnO8 (1954)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 7 (1954), S. 246-248 
    Details
    ISSN: 0001-5520
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0365110X54000722
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII) (1999)
    Springer
    Human genetics 〈Berlin〉 104 (1999), S. 94-98 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Glycogen storage disease type II (GSDII) is an autosomal recessive disorder resulting from inherited deficiency of the enzyme lysosomal acid α-glucosidase. Over 40 different mutations have been described but no large deletions have been previously identified. We now describe a homozygous large (9-kb) deletion extending from IVS15 to 4 kb downstream of the terminal exon (exon 20), detected by polymerase chain reaction (PCR)-based methods. The deletion was initially suspected because of failure to amplify a contiguous group of exons by PCR. We hypothesized an Alu/Alu recombination, based on our prior demonstration by Southern blotting of Alu elements in the regions potentially flanking the deletion. Additional sequence analysis of genomic fragments confirmed the presence of Alu elements and allowed the design of flanking primers for PCR amplification. Amplification resulted in a smaller than normal fragment (0.7 vs 10 kb) in homozygosity in the proband and in heterozygosity in her parents. Cloning and sequencing of the smaller than normal 0.7-kb deletion fragment revealed an Alu/Alu deletion junction. In heterozygosity this deletion would not be detected by currently standard PCR mutation detection methods. Based on other Alu-mediated deletions, this deletion is likely to be recurrent and should be screened for in all non-consanguineous GSDII patients, particularly when only one mutation has been identified and none of the 12 single-nucleotide polymorphisms in the deleted region are heterozygous. These observations also suggest that initial characterization of genes at disease-causing loci should include a search for Alu and other repetitive elements to facilitate subsequent PCR-based mutation analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050916
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    Paper (German National Licenses)
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