Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5379" target="_blank" >RIV/00064203:_____/09:5379 - isvavai.cz</a>

Alternative codes found

RIV/00023736:_____/09:00008205 RIV/61389013:_____/09:00330045

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen

Original language description

Congenital dysfibrinogenemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, resulting in functional defects. Two patients, a 26-year-old woman and a 61-year-old man, both with history of thrombotic events, had abnormal coagulation test results. DNA sequencing showed the heterozygous gamma Y363N mutation (Fibrinogen Praha 111) and the heterozygous A alpha N106D mutation (Fibrinogen Plzen), respectively.

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

FD - Oncology and haematology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2009

Confidentiality

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

Name of the periodical

Thrombosis and Haemostasis

ISSN

0340-6245

e-ISSN

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Volume of the periodical

102

Issue of the periodical within the volume

3

Country of publishing house

DE - GERMANY

Number of pages

8

Pages from-to

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UT code for WoS article

000269890200009

EID of the result in the Scopus database

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