Protein S Deficiency: A Database of Mutations

• References

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• 106 Reitsma PH, Ploos VanAmstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492
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• 108 Simmonds RE, Ireland H, Kunz G, Lane DA. and the Protein S Study group Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 1996; 88: 4195-4204
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• 111 Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-726
• 112 Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. and the French Network INSERM on molecular abnormalities responsible for protein C and protein S deficiencies Molecular basis for protein S (PS) hereditary deficiency:genetic defects observed in 118 patients with type-I (total PS) and type-IIa (free PS) deficiencies. J Lab Clin Med 1996; 128: 218-227
• 113 Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. Thromb Haemost 1997; 77: 14-20
• 114 Okamoto Y, Yamazaki T, Katsumi A, Kojima T, Takamatsu J, Nishida M, Saito H. A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. Thromb Haemost 1996; 75: 877-882
• 115 Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. Blood Coag Fibrin 1994; 5: 593-600
• 116 Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, Saito H. A phenotypically neutral dimorphism of protein S:the substitution of Lys 155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 1993; 70: 395-403
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• 122 Yamazaki T, Katsumi A, Kagami K, Okamoto Y, Sugiura I, Hamaguchi M, Kojima T, Takamatsu J, Saito H. Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg 474. Blood 1996; 87: 4643-4650
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• 134 Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud MF, Dupuy E, Juhan-Vague I, Aiach M. Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity. Blood 1993; 82: 159-168
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