Accepted
at 12:22 a.m. Nov, 01, 2023
by
dollajas
Author:
zahiessam
Type of change:
Content error
Rationale for change
the point mutation that happened in form of replacement of guanine base to adenine base
make it in full form to prevent misunderstanding
source: https://academic.oup.com/labmed/article/41/5/284/2504909
text:
Factor V Leiden is a single point mutation involving a guanine to adenine transition at position 1691 in exon 10 of the factor V gene, which leads to the synthesis of a variant factor V molecule. A FVL mutation resulting in a substitution of Glu to Arg at position 506 in the protein prevents cleavage of factor Va at this site by APC and thus results in a delay of inactivation. As a result, clotting becomes less inhibited.
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