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Quoted phrase not found in phrase index: "Vitamin K-dependent clotting factors, combined deficiency of, type 2"
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Protein C and protein S deficiency - practical diagnostic issues.
Wypasek E, Undas A. Wypasek E, et al. Adv Clin Exp Med. 2013 Jul-Aug;22(4):459-67. Adv Clin Exp Med. 2013. PMID: 23986205 Free article.
Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. ...Approximately 75% of PC-deficient patients have type I deficiency and 95% of PS-deficient patients develop type …
Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. ...Approxi …
The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.
Ghosh S, Oldenburg J, Czogalla-Nitsche KJ. Ghosh S, et al. Int J Mol Sci. 2022 Jan 12;23(2):798. doi: 10.3390/ijms23020798. Int J Mol Sci. 2022. PMID: 35054981 Free PMC article. Review.
Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in gamma-Glutamyl carboxylase (GGCX) gene. The GGCX enzyme catalyzes the gamma-carboxylation of 15 different v …
Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding di …
Exon 2 skipping eliminates gamma-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency.
Rishavy MA, Hallgren KW, Zhang H, Runge KW, Berkner KL. Rishavy MA, et al. J Thromb Haemost. 2019 Jul;17(7):1053-1063. doi: 10.1111/jth.14456. Epub 2019 Jun 7. J Thromb Haemost. 2019. PMID: 31009158 Free PMC article.
Essentials A carboxylase mutation that impairs splicing to delete exon 2 sequences was previously reported. We found that the mutant was inactive for vitamin K-dependent (VKD) protein carboxylation. ...BACKGROUND: Mutations in the gamma-glutamyl carbox …
Essentials A carboxylase mutation that impairs splicing to delete exon 2 sequences was previously reported. We found that the mutant …
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hörtnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Müller CR, Strom TM, Oldenburg J. Rost S, et al. Nature. 2004 Feb 5;427(6974):537-41. doi: 10.1038/nature02214. Nature. 2004. PMID: 14765194
This complex recycles vitamin K 2,3-epoxide to vitamin K hydroquinone, a cofactor that is essential for the post-translational gamma-carboxylation of several blood coagulation factors. ...The complex has been proposed to be involved in tw …
This complex recycles vitamin K 2,3-epoxide to vitamin K hydroquinone, a cofactor that is essential for the post-transl …
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.
Naz A, Jamal MY, Amanat S, Din Ujjan I, Najmuddin A, Patel H, Raziq F, Ahmed N, Imran A, Shamsi TS. Naz A, et al. Orphanet J Rare Dis. 2017 Apr 7;12(1):66. doi: 10.1186/s13023-017-0620-6. Orphanet J Rare Dis. 2017. PMID: 28388959 Free PMC article.
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Diseas …
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, X …