Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family.

CONCLUSION:  The c.797G > A heterozygous missense variation and the c.809_811delACA heterozygous deletion variation are associated with decreased FXII levels in this family, of which c.797G > A is first reported in the world.
PMID: 32916752 [PubMed - as supplied by publisher]

Source: Hamostaseologie - September 10, 2020 Category: Hematology Authors: Wang Y, Zhang H, Liu S, Ye J Tags: Hamostaseologie Source Type: research