A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level

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Bibtex

@article{b6a0ecd9da634a19b3090a87b322a637,
title = "A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level",
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.",
author = "Milagros Balbin and Freije, {Jos{\'e} P} and Magnus Abrahamson and Gloria Velasco and Anders Grubb and Carlos Lopez-Otin",
year = "1993",
doi = "10.1007/BF00202491",
language = "English",
volume = "90",
pages = "668--669",
journal = "Human Genetics",
issn = "1432-1203",
publisher = "Springer",
number = "6",

}