Several new genetic coagulation defects found

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This illustrates that getting a negative result for genetic

coagulation defect only means that you are negative for common ones.

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The presence of the 20209C --> T variant in the current patient and

in eight other reported individuals of African descent, most with

thrombosis-associated complaints, suggests that this rare variant

poses a potential increased risk for thromboembolic disease in this

ethnic group.

PMID: 16988559 Oct 2007, PMID: 1763047, PMID: 14573785

This is the first report of 20209*T in Caucasians, and functional

analysis demonstrates that F2 20209*T falls into a general category

of mutations of the F2 gene, which may possibly contribute to

thrombophilia and complications of pregnancy by interfering with a

tightly balanced architecture of non-canonical F2 3' end formation

signals.

PMID: 16689762 May 2006

20209C>T

20221C>T

PMID: 14573785

Nov 2003