Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.
Kim
Hee-Jin
HJ
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim
Duk-Kyung
DK
Koh
Kwang-Cheol
KC
Kim
Ji-Youn
JY
Kim
Sun-Hee
SH
D000328:Adult; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D009679:Nuclear Family; D010375:Pedigree; D020151:Protein C Deficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index