Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/content/pdf/10.1007/s12185-009-0430-2.pdf
Reference8 articles.
1. Schmidel DK, Tatro AV, Phelps LG, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry. 1990;29:7845–52.
2. Antonarakis SE, and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat. 1998;11:1–3.
3. Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood. 1994;83:683–90.
4. Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, et al. A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res. 1993;70:395–403.
5. Tsuda H, Urata M, Tsuda T, Wakiyama M, Iida H, Nakahara M, et al. Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency effects on secretion and anticoagulant activity of protein S. Thromb Res. 2002;105:233–9.
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