| http://purl.uniprot.org/citations/8274732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8274732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8274732 | http://www.w3.org/2000/01/rdf-schema#comment | "Inherited type 1 antithrombin (AT) III deficiency is characterized by a decrease of immunoreactive and functional protein levels to about 50%. The disorder is associated with a significantly increased risk of thromboembolism. We have investigated the molecular basis of type 1 AT deficiency in a Belgian family. The diagnosis of the disease was primarily made in a newborn girl with unusually severe thrombotic complications. Using the polymerase chain reaction and single-strand conformation polymorphism analysis, followed by direct sequencing of AT gene fragments, we identified a novel point mutation in exon 6. We detected a G to C substitution in the first position of codon 424 leading to a glycine to arginine substitution. The modification at this highly conserved position in the serine protease inhibitor gene family probably leads to an unstable mutant-gene product. The mutation creates a unique restriction site for the enzyme Hha I in exon 6. This change permitted a rapid and accurate screening of the kindred with identification of the molecular defect in five other family members."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Jochmans K."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Jochmans K."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Liebaers I."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Liebaers I."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Peeters S."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Peeters S."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Vervoort R."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "Vervoort R."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "de Waelwe M."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/author | "de Waelwe M."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/pages | "146-151"xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/pages | "146-151"xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/title | "Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/title | "Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis."xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/volume | "83"xsd:string |
| http://purl.uniprot.org/citations/8274732 | http://purl.uniprot.org/core/volume | "83"xsd:string |