Article
Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism.
Prenatal diagnosis - 1 Jun 2003
Camire Rodney, Ann Denchy Ruth, Day George A, Lanzano Patricia, Sheth Sujit, Brown Stephen
Abstract excerpt
OBJECTIVE: To present a family in which it was possible to perform prenatal diagnosis for recessively inherited factor X deficiency using both direct mutation detection as well as linkage analysis. METHODS: In a family where both parents were known to be carriers of factor X deficiency, fetal DNA was obtained from an ongoing pregnancy by CVS in the first trimester. Direct DNA sequencing was used to detect a...
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