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  • 1
    Electronic Resource
    Electronic Resource
    Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 95-98 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel electrophoresis. Two novel mutations were found: a 4 bp deletion in a so-called quasi-symmetric element (6789delTTAC) and a recurrent nonsense mutation, which was identified in two unrelated patients, at codon 2264 (C6792A). The independent origin of the latter mutation in two families was confirmed by haplotype analysis. The nonsense mutation and the 4 bp deletion are both predicted to lead to a truncated protein product lacking the Cterminal 20% (aproximately) of its sequence. The occurrence of three independent mutations among 92 NF1 patients at codons 2263–2264 (exon 37) suggests that a specific search for mutations in this area should be undertaken in screening programs for NF1 mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00214193
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    Paper (German National Licenses)
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  • 2
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    A compilation of CTD- and profiling current meter data from GATE 1974, F.S. "Meteor" and W.F.S. "Planet" (1978)
    Bornträger
    Details
    Publication Date: 2022-06-23
    Description: This paper presents a compilation of the data sets obtained by CTDs and profiling current meters on board the ships "Meteor" and "Planet" during GATE in the B- and C-Scale Areas (7°-10 °N, 22°-25°W, June 17 to September 24, 1974). The bulk of the CTD data is displayed in the form of isopleths. Selected sets of profiles, outlining special phenomena observed, and profiles of the mean and standard deviation of temperature and salinity are given additionally. Besides examples of actual current profiles, isopleths of the 25 hour mean current components, and isopleths of the vertical shear are presented. The mean current components and their standard deviations are also displayed. Time series presented are suitable for comparison with moored current measurements. The presentation of the data is preceded by a summary of the editing procedures and by a discussion of the data quality.
    Type: Article , PeerReviewed
    Format: text
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    OceanRep: Article in a Scientific Journal - peer-reviewed
  • 3
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    A compilation of current, temperature and conductivity data from moorings F1 and F2 in the GATE-C-Area (1978)
    Bornträger
    Details
    Publication Date: 2022-06-23
    Description: Oceanographic measurements by groups from the Federal Republic of Germany contributed mainly to the C-Scale Experiment (centered at 9° N, 23° W) and the Equatoria1 Experiment. In this paper the data are presented that were obtained from the moorings F 1 and F 2 in the C-area. After a short discussion of instrument problems, data processing and statistical analysis, the data are presented graphically as time series, progressive vector diagrams, frequency distributions and spectra of horizontal kinetic energy and of temperature variance.
    Type: Article , PeerReviewed
    Format: text
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    OceanRep: Article in a Scientific Journal - peer-reviewed
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