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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A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level. / Balbin, Milagros; Freije, José P; Abrahamson, Magnus; Velasco, Gloria; Grubb, Anders; Lopez-Otin, Carlos.

I: Human Genetics, Vol. 90, Nr. 6, 1993, s. 668-669.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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Balbin, Milagros ; Freije, José P ; Abrahamson, Magnus ; Velasco, Gloria ; Grubb, Anders ; Lopez-Otin, Carlos. / A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level. I: Human Genetics. 1993 ; Vol. 90, Nr. 6. s. 668-669.

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TY - JOUR

T1 - A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level

AU - Balbin, Milagros

AU - Freije, José P

AU - Abrahamson, Magnus

AU - Velasco, Gloria

AU - Grubb, Anders

AU - Lopez-Otin, Carlos

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

U2 - 10.1007/BF00202491

DO - 10.1007/BF00202491

M3 - Article

VL - 90

SP - 668

EP - 669

JO - Human Genetics

JF - Human Genetics

SN - 1432-1203

IS - 6

ER -