Compound heterozygous mutations Glu502Lys and Met527Thr of the FXII gene in a patient with factor XII deficiency.

Zhang, Haiyue

Compound heterozygous mutations Glu502Lys and Met527Thr of the FXII gene in a patient with factor XII deficiency. [electronic resource] - Hematology (Amsterdam, Netherlands) Dec 2019 - 420-425 p. digital

Publication Type: Case Reports; Journal Article

1607-8454

10.1080/16078454.2019.1598679 doi


Amino Acid Substitution
Factor XII--genetics
Factor XII Deficiency--genetics
Female
Humans
Male
Middle Aged
Mutation, Missense
Protein Domains