(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations

Two (ATT) trinucleotide repeat polymorphisms have been identified in the tails of Alu repeat elements in intron 5 of the antithrombin gene. The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorp...

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Veröffentlicht in:	Human mutation 1994, Vol.4 (1), p.31-41
Hauptverfasser:	Olds, Robin J., Lane, David A., Chowdhury, Vijoy, Sas, Geza, Pabinger, Ingrid, Auberger, Karin, Thein, Swee Lay
Format:	Artikel
Sprache:	eng
Schlagworte:	(ATT) repeats Alu sequence Alu tails Antithrombin Antithrombins - genetics ATT trinucleotide repeat Base Sequence DNA Primers - genetics European Continental Ancestry Group - genetics Gene Frequency genes Haplotypes Humans man Molecular Sequence Data Mutation mutation rates Oligodeoxyribonucleotides - genetics Polymorphism, Genetic Repeat mutations repeated sequence Repetitive Sequences, Nucleic Acid restriction fragment length polymorphism Terminology as Topic
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