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Further studies on factor VII Padua defect: the report of the fourth homozygous patient from the same valley.

作者信息

Girolami A, Gaio A, Doglioni L, Procidano M, Saltarin P

出版信息

Blut. 1982 Jun;44(6):363-9. doi: 10.1007/BF00319920.

DOI:10.1007/BF00319920
PMID:7082862
Abstract

A new patient with factor VII Padua abnormality is presented. The proposita is an 11-year-old girl who showed a mild bleeding tendency and a laboratory pattern characterized by a prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII assay was 10% using rabbit brain thromboplastin and 100% of normal using ox brain thromboplastin. Factor VII cross-reaction material was normal. The parents were not consanguineous but both came from the same area and were found to be heterozygous for the abnormality. The discovery of the present patient, the fourth in three years, indicates that the defect might be more frequent than originally thought.

摘要

相似文献

1
Further studies on factor VII Padua defect: the report of the fourth homozygous patient from the same valley.
Blut. 1982 Jun;44(6):363-9. doi: 10.1007/BF00319920.
2
Report of the fifth homozygous patient with factor VII Padua defect.第五例患有凝血因子VII帕多瓦缺陷的纯合子患者报告。
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3
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Blood Coagul Fibrinolysis. 1993 Feb;4(1):177-81.
5
Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern.凝血因子VII帕多瓦2型:另一种凝血因子VII异常,伴有牛脑凝血活酶激活缺陷及复杂的遗传模式。
Blood. 1979 Jul;54(1):46-53.
6
Factor VII Padua defect: the heterozygote population.凝血因子VII帕多瓦缺陷:杂合子群体。
Acta Haematol. 1982;68(1):34-8. doi: 10.1159/000206945.
7
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes.因子VII帕多瓦(Arg304Gln)凝血障碍及真性因子VII缺乏症中活化FVII水平:一项针对纯合子和杂合子的研究
Hematology. 2011 Sep;16(5):308-12. doi: 10.1179/102453311X13085644680069.
8
Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.携带有先证者及其母亲相同复合杂合性 Thr384Met 和 Arg413Gln 的独特先天性因子 VII 缺陷。
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Hereditary factor VII deficiency in a Chinese family.一个中国家庭中的遗传性凝血因子VII缺乏症
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10
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.因意外摄入敌鼠酮类灭鼠剂导致联合遗传性因子 VII 和因子 X 缺乏患者的诊断错误
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本文引用的文献

1
Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions.先天性血清凝血活酶原复合物缺乏症:一种迄今未被认识的凝血缺陷,可通过血清和血清成分纠正出血。
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2
The congenital factor VII abnormalities (dysproconvertinemias). The genetic plot thickens.先天性凝血因子VII异常(异常转化素血症)。遗传情况愈发复杂。
Folia Haematol Int Mag Klin Morphol Blutforsch. 1980;107(1):131-6.
3
Factor VII antibody-neutralizing material in hereditary and acquired factor VII deficiency.
遗传性和获得性因子VII缺乏症中的因子VII抗体中和物质
Blood. 1971 Jul;38(1):1-8.
4
A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred.
Br J Haematol. 1970 Aug;19(2):179-92. doi: 10.1111/j.1365-2141.1970.tb01615.x.
5
Dilution curve studies in prothrombin complex factors deficiencies and abnormalities.
Blut. 1974 Aug;29(2):134-43. doi: 10.1007/BF01633837.
6
Active and inactive factor VII in Dubin-Johnson syndrome with factor-VII deficiency, hereditary factor-VII deficiency and on coumadin administration.
Br J Haematol. 1972 Dec;23(6):669-77. doi: 10.1111/j.1365-2141.1972.tb03482.x.
7
Congenital hypoproconvertinemia (factor VII deficiency). A report of two cases belonging to two different kindreds.
Acta Haematol. 1973 Oct;50(4):228-37. doi: 10.1159/000208354.
8
Genetic variants of factor VII.凝血因子VII的基因变异体
Lancet. 1972 Jun 3;1(7762):1234. doi: 10.1016/s0140-6736(72)90951-8.
9
Molecular variant of factor VII.凝血因子 VII 的分子变体
Thromb Haemost. 1976 Apr 30;35(2):289-94.
10
Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency.因子VII维罗纳凝血障碍:异常因子VII与杂合性因子VII缺乏的双重杂合状态。
Blood. 1977 Oct;50(4):603-10.