Two new factor X mutations (Pro382Leu and Phe356Cys) associated with low activity and low antigen levels.
Deam
Susan
S
Uprichard
James
J
Eaton
Julian T
JT
Perkins
Stephen J
SJ
Dasani
Hasmukh
H
Hanley
John
J
Dolan
Gerard
G
D005170:Factor X / Q000737:chemistry / Q000235:genetics*; D005171:Factor X Deficiency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D011487:Protein Conformation
D005170:Factor X