Project information
Molecular Genetic Analysis in Patients with Hereditary Angioedema
- Project Identification
- NI5558
- Project Period
- 1/1999 - 1/2001
- Investor / Pogramme / Project type
-
Ministry of Health of the CR
- Infectious Diseases, Microbiology, Epidemiology and Immunology
- MU Faculty or unit
- Faculty of Medicine
- Cooperating Organization
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St. Anne's University Hospital Brno
- Responsible person MUDr. Pavel Kuklínek, CSc.
- Responsible person prof. MUDr. Tomáš Freiberger, Ph.D.
The aim of the project is to characterize at molecular level a set of patients with hereditary angioedema. To determine mutation spectrum in C1 inhibitor gene in patients from Czech Republic. To identify B2 bradykinin receptor gene polymorphism influence on disease manifestation.
Publications
Total number of publications: 6
2003
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Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy
J Paediatr Child Health, year: 2003, volume: 39, edition: 4
2002
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Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema.
Hum Immunol, year: 2002, volume: 63, edition: 6
-
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
Human Mutation, year: 2002, volume: 19, edition: 4
2001
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Některé epidemiologické, patogenetické a klinické aspekty selektivního deficitu IgA
Alergie, year: 2001, volume: 3, edition: 4
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ÚLOHA KYSELINY ASPARAGOVÉ NA 57. POZICI HLA-DQ BETA ŘETĚZCE U SPORADICKÉ A FAMILIÁRNÍ FORMY SELEKTIVNÍ DEFICIENCE IgA
Časopis lékařů českých, year: 2001, volume: 140, edition: 24
2000
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Léčebné využití nespecifických globulinových derivátů
Postgraduální medicína, year: 2000, volume: 2, edition: 1