title: A common missense variant in exon 5 of antithrombin gene (SERPINC1) in Indian patients with thrombosis.
authors.affiliation: National Institute of Immunohaematology (ICMR), 13(th) floor, KEM Hospital, Parel, Mumbai 400 012, India.
authors.forename: Rutuja
authors.initials: R
authors.lastname: Deshpande
authors.affiliation: National Institute of Immunohaematology (ICMR), 13(th) floor, KEM Hospital, Parel, Mumbai 400 012, India.
authors.forename: Bipin
authors.initials: B
authors.lastname: Kulkarni
authors.affiliation: Surat Raktadan Kendra, Surat, Gujarat, India.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohaematology (ICMR), 13(th) floor, KEM Hospital, Parel, Mumbai 400 012, India. Electronic address: shrimatishetty@yahoo.com.
authors.forename: Shrimati
authors.initials: S
authors.lastname: Shetty
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D000990:Antithrombin III / Q000737:chemistry / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005091:Exons; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D008958:Models, Molecular; D020125:Mutation, Missense; D011487:Protein Conformation; D016415:Sequence Alignment; D013927:Thrombosis / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C542513:SERPINC1 protein, human; D000990:Antithrombin III
keywords: Antithrombin III protein, human; Genetic testing; India; Mutation; Thrombosis