title: Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification.
authors.forename: H-S
authors.initials: HS
authors.lastname: Choung
authors.forename: H-J
authors.initials: HJ
authors.lastname: Kim
authors.forename: G-Y
authors.initials: GY
authors.lastname: Gwak
authors.forename: S-H
authors.initials: SH
authors.lastname: Kim
authors.forename: D-K
authors.initials: DK
authors.lastname: Kim
mesh_terms: D000328:Adult; D001483:Base Sequence; D001798:Blood Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons; D020440:Gene Duplication; D015321:Gene Rearrangement; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D011169:Portal Vein; D017293:Protein S; D018455:Protein S Deficiency / Q000150:complications / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: D001798:Blood Proteins; C523390:PROS1 protein, human; D017293:Protein S; D004247:DNA