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Projects / Programmes source: ARIS

Incidence of erythropoietic protoporphyria and molecular mechanism in population of Slovenia

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Research activity

Code Science Field Subfield
3.07.00  Medical sciences  Metabolic and hormonal disorders   

Code Science Field
B630  Biomedical sciences  Dermatology, venereology 
Keywords
Erithropoietic protoporphyria, incidence, Slovenian population, DNA deficiencies
Evaluation (rules)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Researchers (10)
no. Code Name and surname Research area Role Period No. of publications
1.  23377  Mirjam Belič  Metabolic and hormonal disorders  Researcher  2003 - 2005  34 
2.  09275  PhD Damjan Glavač  Chemistry  Researcher  2003 - 2005  565 
3.  07616  MSc Maksimiljan Gorenjak  Human reproduction  Researcher  2003 - 2005  206 
4.  01174  PhD Aleksej Kansky  Microbiology and immunology  Researcher  2003 - 2004  223 
5.  02053  PhD Ivan Krajnc  Microbiology and immunology  Head  2003 - 2005  615 
6.  23186  MSc Pij Bogomir Marko  Medical sciences  Researcher  2003 - 2005  215 
7.  16252  PhD Jovan Miljković  Microbiology and immunology  Researcher  2003 - 2005  262 
8.  16340  PhD Uroš Potočnik  Microbiology and immunology  Researcher  2003 - 2005  630 
9.  16253  Ida Prelog  Microbiology and immunology  Researcher  2003 - 2005  29 
10.  04651  MSc Teofil Žižek  Chemistry  Researcher  2003 - 2005  14 
Organisations (2)
no. Code Research organisation City Registration number No. of publications
1.  0334  University Medical Centre Maribor  Maribor  5054150000  22,797 
2.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,301 
Abstract
In the course of the investigation patiens will be detected by clinical records and routine clinical work. The diagnosis will be based on patints' histories, clinical symptoms and a protoporpyrin values in erythrocytes. Pedigrees of the involved families will be prepared. Ten ml of venous blood will be taken after obtaining the informed consent.After extraction of DNA the screening will be preformed as follows: the suspected fragments will be multiplied by PCR using Taq polimerase. The obtined fragments will be analised by the method of estimating conformations of the single stranded DNA and/or with the analysis of heteroduplexes. The final identification will be done by sequencing of the single stranded DNA.
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