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  • 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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  • Result 1-1 of 1
Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Abrahamson, Magnus (1)
Grubb, Anders (1)
Lopez-Otin, Carlos (1)
Balbin, Milagros (1)
Freije, José P (1)
Velasco, Gloria (1)
University
Lund University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
1993 (1)

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