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  • Articles  (2)
  • Articles: DFG German National Licenses  (2)
  • 1990-1994  (2)
Document type
  • Articles  (2)
Source
  • Articles: DFG German National Licenses  (2)
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  • 1
    Electronic Resource
    Electronic Resource
    Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locus (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 356-359 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase chain reaction amplification of the segment carrying the mutation revealed that both alleles were expressed in both cell types analysed, thus excluding loss of heterozygosity in this particular instance. Segregation of the alleles of the intragenic Alu sequence length-polymorphism disclosed the paternal orgin of the mutated allele. Detection of this mutation was also used for presymptomatic direct DNA diagnosis in the younger child of the patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220458
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 685-687 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. This mutation could also be detected in the patient and in his affected daughter by heteroduplex analysis. The deletion removes the proximal half of a small potential stem-loop and interrupts the reading frame in exon 1. A severely truncated protein with a grossly altered carboxy terminus lacking one third of its sequence is expected to be formed from the mutant allele.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201726
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    Paper (German National Licenses)
    Fulltext
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