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引用本文的文献

1
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.γ-谷氨酰羧化酶突变可影响维生素 K 依赖性蛋白的生物学功能。
Blood. 2021 Jan 28;137(4):533-543. doi: 10.1182/blood.2020006329.
2
Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.通过基于细胞的检测方法对B型血友病中FIX信号肽和前肽错义突变的特征分析
Blood Adv. 2020 Aug 11;4(15):3659-3667. doi: 10.1182/bloodadvances.2020002520.

本文引用的文献

1
Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.导致出血性和非出血性疾病的维生素K依赖性羧化酶突变的特征分析。
Blood. 2016 Apr 14;127(15):1847-55. doi: 10.1182/blood-2015-10-677633. Epub 2016 Jan 12.
2
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.扩大182例西班牙颅缝早闭先证者的突变谱：新型TCF12变体的鉴定与特征分析
Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1.
3
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.GGCX 基因突变患者的出血和非出血表型。
Thromb Res. 2014 Oct;134(4):856-65. doi: 10.1016/j.thromres.2014.07.004. Epub 2014 Jul 12.
4
Vitamin K-dependent coagulation factors deficiency.维生素K依赖的凝血因子缺乏症。
Semin Thromb Hemost. 2009 Jun;35(4):439-46. doi: 10.1055/s-0029-1225766. Epub 2009 Jul 13.
5
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.并存的弹性假黄瘤和维生素K依赖凝血因子缺乏症：GGCX基因突变的复合杂合性
Am J Pathol. 2009 Feb;174(2):534-40. doi: 10.2353/ajpath.2009.080865. Epub 2008 Dec 30.
6
Identification of the N-linked glycosylation sites of vitamin K-dependent carboxylase and effect of glycosylation on carboxylase function.维生素K依赖性羧化酶N-糖基化位点的鉴定及糖基化对羧化酶功能的影响。
Biochemistry. 2006 Dec 12;45(49):14755-63. doi: 10.1021/bi0618518.
7
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.伴有皮肤松弛和多种凝血因子缺乏的弹性假黄瘤样表型代表一种独立的遗传实体。
J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16.
8
Truncated gamma-glutamyl carboxylase in rambouillet sheep.兰布耶羊中的截短型γ-谷氨酰羧化酶
Vet Pathol. 2006 Jul;43(4):430-7. doi: 10.1354/vp.43-4-430.
9
Identification of the gene for vitamin K epoxide reductase.维生素K环氧化物还原酶基因的鉴定。
Nature. 2004 Feb 5;427(6974):541-4. doi: 10.1038/nature02254.
10
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.维生素K环氧化物还原酶复合体1（VKORC1）的突变会导致华法林抵抗和2型多种凝血因子缺乏症。
Nature. 2004 Feb 5;427(6974):537-41. doi: 10.1038/nature02214.

Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors.

作者信息

Jin Da-Yun, Ingram Brian O, Stafford Darrel W, Tie Jian-Ke

机构信息

Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC.

出版信息

Blood. 2017 Aug 17;130(7):948-951. doi: 10.1182/blood-2017-05-782367. Epub 2017 Jul 5.

DOI:10.1182/blood-2017-05-782367
PMID:28679738
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5561904/
Abstract
摘要