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- W2980496027 abstract "We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12–14 repetitions [(CA)12−14]. The frequencies were 0·5% and 0% for (CA)12, 99% and 95·8% for (CA)13, and 0·5% and 4·2% for (CA)14 in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers." @default.
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- W2980496027 date "2000-12-01" @default.
- W2980496027 modified "2023-10-18" @default.
- W2980496027 title "Identification of a new CA dinucleotide repeat in the human factor VIII gene" @default.
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- W2980496027 doi "https://doi.org/10.1111/j.1365-2141.2000.02490.x" @default.
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