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2. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S. Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520 [Abstract] [Full Text] [Related]
3. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees. Gómez E, Poort SR, Bertina RM, Reitsma PH. Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398 [Abstract] [Full Text] [Related]
4. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis. Mizukami K, Nakabayashi T, Naitoh S, Takeda M, Tarumi T, Mizoguchi I, Ieko M, Koike T. Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938 [Abstract] [Full Text] [Related]
5. A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. Okamoto Y, Yamazaki T, Katsumi A, Kojima T, Takamatsu J, Nishida M, Saito H. Thromb Haemost; 1996 Jun; 75(6):877-82. PubMed ID: 8822579 [Abstract] [Full Text] [Related]
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14. DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects. Iwaki T, Mastushita T, Kobayashi T, Yamamoto Y, Nomura Y, Kagami K, Nakayama T, Sugiura I, Kojima T, Takamatsu J, Kanayama N, Saito H. Semin Thromb Hemost; 2001 Feb; 27(2):155-60. PubMed ID: 11372770 [Abstract] [Full Text] [Related]
15. Identification of three novel mutations in hereditary protein S deficiency. Bustorff TC, Freire I, Gago T, Crespo F, David D. Thromb Haemost; 1997 Jan; 77(1):21-5. PubMed ID: 9031443 [Abstract] [Full Text] [Related]
16. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M. Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316 [Abstract] [Full Text] [Related]
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18. Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency. ten Kate MK, Mulder R, Platteel M, Brouwer JL, van der Steege G, van der Meer J. Haematologica; 2006 Aug; 91(8):1151-2. PubMed ID: 16885060 [Abstract] [Full Text] [Related]