Article
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.
Human genetics - 1 Jan 1991
Wieland K, Millar D S, Grundy C B, Mibashan R S, Kakkar V V, Cooper D N
Abstract excerpt
A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction...
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