Two novel mutations in the fibrinogen .gamma. nodule

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61389013%3A_____%2F14%3A00431675" target="_blank" >RIV/61389013:_____/14:00431675 - isvavai.cz</a>

Alternative codes found

RIV/00023736:_____/14:00011071

Result on the web

<a href="http://dx.doi.org/10.1016/j.thromres.2014.07.021" target="_blank" >http://dx.doi.org/10.1016/j.thromres.2014.07.021</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.thromres.2014.07.021" target="_blank" >10.1016/j.thromres.2014.07.021</a>

Result language

angličtina

Original language name

Two novel mutations in the fibrinogen .gamma. nodule

Original language description

Congenital dysfibrinogenemia and hypofibrinogenemia are rare diseases characterized by inherited abnormality in the fibrinogen molecule, resulting in functional defects (dysfibrinogenemia) or low fibrinogen plasma levels (hypofibrinogenemia). We have described two abnormal fibrinogens ? fibrinogen Hranice (? Phe204Val) and Praha IV (? Ser313Gly). The carrier of the Hranice mutation was a 40-year-old female with low fibrinogen levels. The carrier of the Praha IV mutation was a 42-year-old man with a history of idiopathic thrombosis, low functional fibrinogen levels, and a prolonged thrombin time. Fibrin polymerization kinetics measurement was normal in both cases (after the addition of either thrombin or reptilase), as well as was fibrinolysis. Scanningelectron microscopy and confocal microscopy revealed significantly wider fibers in both cases, when compared with fibers prepared from healthy control samples. Although both cases are situated in the ?-nodule, they manifested differently

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

BO - Biophysics

OECD FORD branch

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Project

<a href="/en/project/GBP205%2F12%2FG118" target="_blank" >GBP205/12/G118: Nanobiophotonics for future health care</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Thrombosis Research

ISSN

0049-3848

e-ISSN

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Volume of the periodical

134

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

901-908

UT code for WoS article

000342360900023

EID of the result in the Scopus database

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