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  • 11
    Electronic Resource
    Electronic Resource
    De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 193-196 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The single X chromosome of a girl with Turner syndrome 45,X and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282093
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    Paper (German National Licenses)
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  • 12
    Electronic Resource
    Electronic Resource
    Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 222-227 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291665
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    Paper (German National Licenses)
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  • 13
    Electronic Resource
    Electronic Resource
    Evidence for ionic clusters in butadiene-methacrylic acid copolymers neutralized with various salts (1974)
    New York : Wiley-Blackwell
    Journal of Polymer Science: Polymer Physics Edition 12 (1974), S. 115-130 
    Details
    ISSN: 0098-1273
    Keywords: Physics ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: Effects of neutralization on butadiene-methacrylic acid copolymers have been studied. In Hycar CTB with 2% acid groups, small-angle x-ray scattering gives evidence of some cation clustering and leads to a value of the mean radius of 5.6 Å for the clusters and a value of the distance between them of 70 Å. When the concentration of salt is increased there is no appreciable change in the distance between clusters or in their size, but their number increases. The structure of clusters has been studied by electron paramagnetic resonance in copolymers neutralized with copper salts. The appearance of a line as in the monohydrated acetate salt permits one to define the structure of clusters consisting of two Cu2+ and four RCOO- ions with two H2O or RCOOH molecules. When the temperature is increased, the signal corresponding to Cu2+-Cu2+ pairs disappears. In high molecular weight butadiene methacrylic acid copolymers with 9% acid groups, we have found the ion pair clusters gathered into larger clusters. In dynamic mechanical properties, a relaxation peak appears at 340°K. We interpret this as due to breaking and possible re-forming of dipolar associations.
    Additional Material: 14 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/pol.1974.180120110
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    Paper (German National Licenses)
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