Abstract:
:To identify the pathogenesis of a Chinese woman diagnosed with dysfibrinogenemia. A patient from Nanjing presented with a low plasma concentration of fibrinogen and a normal level of antigen of fibrinogen. This abnormality was also detected in her son. To detect whether the genetic mutation was responsible for the dysfibrinogenemia, genomic DNA was extracted and amplified by polymerase chain reaction, and DNA sequencing was performed on the purified PCR products. Restriction fragment length polymorphism (RFLP), molecular modeling and homologous sequences alignment were performed. Two heterozygous missense variants, AαArg16His and γAsp185Asn, were discovered in the proband. Only the former was detected in her son. AαArg16His had been reported by other teams, and γAsp185Asn was identified first in our study as a novel variant. RFLP was performed and indicated that the novel failed to be found in normal subjects. Furthermore, it was suggested to be responsible for dysfibrinogenemia depending on the molecular modeling and homologous sequence alignment. The heterozygous AαArg16His and γAsp185Asn identified in the study probably underlie the dysfibrinogenemia in this pedigree, with the latter being identified for the first time.
journal_name
J Thromb Thrombolysisjournal_title
Journal of thrombosis and thrombolysisauthors
Zhou N,Xu P,Zhou M,Xu Y,Li P,Chen B,Ouyang J,Zhou Rdoi
10.1007/s11239-017-1496-ysubject
Has Abstractpub_date
2017-07-01 00:00:00pages
139-144issue
1eissn
0929-5305issn
1573-742Xpii
10.1007/s11239-017-1496-yjournal_volume
44pub_type
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journal_title:Journal of thrombosis and thrombolysis
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journal_title:Journal of thrombosis and thrombolysis
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章,随机对照试验
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
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更新日期:2020-08-04 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1023/A:1008848026759
更新日期:1998-07-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/BF01062706
更新日期:1995-01-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章,评审
doi:10.1023/a:1027372901367
更新日期:2000-11-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
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更新日期:2020-05-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-005-0344-7
更新日期:2004-12-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
doi:10.1007/s11239-015-1224-4
更新日期:2016-04-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-007-0023-y
更新日期:2007-10-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1023/A:1008866025015
更新日期:1998-09-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-019-01932-8
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journal_title:Journal of thrombosis and thrombolysis
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journal_title:Journal of thrombosis and thrombolysis
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更新日期:2007-08-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
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更新日期:2007-12-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 临床试验,杂志文章
doi:10.1007/s11239-013-0981-1
更新日期:2014-07-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2012-08-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2015-10-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-015-1305-4
更新日期:2016-02-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 已发布勘误
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更新日期:2018-01-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-020-02152-1
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:The endothelial ADP receptor P2Y(1) is responsible for a large part of the reactive hyperemia following cardiac ischemia. Tissue plasminogen activator (t-PA) increases during reactive hyperemia. We postulated that the release of t-PA during reactive hyperemia could be mitigated through blocking the coronary ...
journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-007-0010-3
更新日期:2007-10-01 00:00:00
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journal_title:Journal of thrombosis and thrombolysis
pub_type: 杂志文章
doi:10.1007/s11239-014-1140-z
更新日期:2015-02-01 00:00:00