title: A novel frameshift mutation Gly239Serfs*8 in the PROC gene results in protein C deficiency in a Korean patient.
authors.forename: Sang Hyuk
authors.initials: SH
authors.lastname: Park
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.forename: Hye-Kyung
authors.initials: HK
authors.lastname: Yang
authors.forename: Hyoeun
authors.initials: H
authors.lastname: Shim
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Yeon-Mok
authors.initials: YM
authors.lastname: Oh
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002637:Chest Pain / Q000209:etiology; D003062:Codon; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008297:Male; D059352:Musculoskeletal Pain / Q000209:etiology; D011486:Protein C / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D020151:Protein C Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D011655:Pulmonary Embolism / Q000209:etiology / Q000503:physiopathology; D056910:Republic of Korea; D013848:Thigh; D020246:Venous Thrombosis / Q000209:etiology / Q000503:physiopathology; D055815:Young Adult
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D011486:Protein C