Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9237" target="_blank" >RIV/00216208:11110/11:9237 - isvavai.cz</a>
Alternative codes found
RIV/67985807:_____/11:00373487
Result on the web
<a href="http://www.ejbi.eu/images/2011-1/Sormova_en.pdf" target="_blank" >http://www.ejbi.eu/images/2011-1/Sormova_en.pdf</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population
Original language description
Background: Osteogenesis imperfecta is an inherited disorder particularily of a human connective tissue. It is a worldwide extensive disorder regardless of age, gender or ethnic group. At present the disease includes nine clinically different types. Typical clinical features are brittle bones, high frequency of fractures and bone deformities. The other observed signs are blue sclera, dentinogenesis imperfect and otosclerosis. The first four types of the disease arise from mutations in collagen type I genes, composed from COL1A1 and COL1A2 chains. A result of these mutations is the production of shortened or structurally defective protein. Individuals affected by OI forms V to IX have mutations in proteins encoded by following genes: CRTAP, LEPRE1, PPIB, FKBP10. Collagenous types of the illness exhibit a broad range of severity depending on type and mutation localization in the structure of the collagen type I. Objectives and Methods: The aim of this study is the description of the clin
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FM - Hygiene
OECD FORD branch
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Result continuities
Project
<a href="/en/project/1M06014" target="_blank" >1M06014: Centre of Biomedical Informatics</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal for Biomedical Informatics
ISSN
1801-5603
e-ISSN
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Volume of the periodical
7
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
6
Pages from-to
59-64
UT code for WoS article
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EID of the result in the Scopus database
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