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Träfflista för sökning "(L773:0340 6717 OR L773:1432 1203) pers:(Abrahamson Magnus) srt2:(1993)"

Search: (L773:0340 6717 OR L773:1432 1203) pers:(Abrahamson Magnus) > (1993)

  • Result 1-2 of 2
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1.
  • Balbin, Milagros, et al. (author)
  • A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level
  • 1993
  • In: Human Genetics. - 1432-1203. ; 90:6, s. 668-669
  • Journal article (peer-reviewed)abstract
    • A polymorphism in the coding region of the human cystatin D gene has been detected by direct sequencing of amplified DNA from different individuals. The variation, resulting from a T/C transition in exon 1 of the gene, causes an amino acid variation, Cys/Arg, at the protein level. An allele-specific oligonucleotide hybridization assay was developed and used to demonstrate this polymorphism in the population. The deduced frequencies were 0.55 and 0.45 for the Cys and Arg variant-encoding alleles, respectively.
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2.
  • Balbin, Milagros, et al. (author)
  • An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism
  • 1993
  • In: Human Genetics. - 1432-1203. ; 92:2, s. 206-207
  • Journal article (peer-reviewed)abstract
    • A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
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  • Result 1-2 of 2
Type of publication
journal article (2)
Type of content
peer-reviewed (2)
Author/Editor
Abrahamson, Magnus (2)
Grubb, Anders (2)
Balbin, Milagros (2)
Lopez-Otin, Carlos (1)
Freije, José P (1)
Velasco, Gloria (1)
University
Lund University (2)
Language
English (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (2)
Year
1993 (2)Undo refine

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