Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype.
Carter
I S R
IS
Hewitt
J
J
Pu
C H
CH
Wu
J K
JK
Carter
C J
CJ
Macgillivray
R T A
RT
D001798:Blood Proteins / Q000172:deficiency / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017293:Protein S; D018455:Protein S Deficiency / Q000235:genetics*; D017384:Sequence Deletion
D001798:Blood Proteins; D018389:Codon, Nonsense; C523390:PROS1 protein, human; D017293:Protein S