About: Implementation of high-performance liquid chromatography (HPLC) to the molecular testing of inherited haemostatic defects and to the histocompatibility tests for haematopoietic stem cell transplantation (HSCT).

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About: Implementation of high-performance liquid chromatography (HPLC) to the molecular testing of inherited haemostatic defects and to the histocompatibility tests for haematopoietic stem cell transplantation (HSCT). Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Projekt, within Data Space : linked.opendata.cz associated with source document(s)

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Description	Zlepšit diagnostickou přesnost a zvýšit průchodnost analýzy sekvenčních variant pomocí HPLC, stidované geny zahrnují lokusy: FVIII, HLA-A, -B, -C a -DRB1. Identifikovat příčinné mutace u indexových nemocných s hemofilií A. Vyšetřit přenašečství v rodinách s nalezenou příčinnou mutací. Využít nově zjištěných aminokyselinových záměn ve FVIII k in vitro a in silico studiím vztahu struktury a funkce molekuly FVIII. Prozkoumat vhodnost využití HPLC ke zvýšení rozlišovací schopnosti genotypizace HLA v případech, kde současné metody poskytují jen nejednoznačné závěry. (cs) To improve diagnostic precision and throughput of analysis DNA sequence variants by means of HPLC. The human genom loci involved will be FVIII gene and HLA-A, -B, -C and -DRB1. To identify causal mutations in index patients with haemophilia A and based on this knowledge to determine carrier status in their relatives. To utilise novel amino acid substitutions detected in the individual patients for in vigtro and in silico studies of the relationship between structure and function of FVIII molecule. To increase discrimination of the HLA genotyping when currently used techniques lead to ambiguous results, to improve HLA compatibility in unrelated haematopoietic stem cell transplantation. (en)
Title	Implementation of high-performance liquid chromatography (HPLC) to the molecular testing of inherited haemostatic defects and to the histocompatibility tests for haematopoietic stem cell transplantation (HSCT). (en) Implementace vysoce účinné kapalinové chromatografie (HPLC) k molekulárně genetické diagnostice vrozených poruch hemostázy a ke zpřesnění testu histokompatibility pro transplantaci hematopoetických kmenových buněk (HSCT) (cs)
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http://linked.open...n/vavai/kategorie	http://linked.opendata.cz/resource/domain/vavai/cep/kategorie/21
http://linked.open...vai/klicova-slova	DNA analysis;coagulant factor VIII;HLA;mutation;haemophilia A;histocompatibility;HSCT;HPLC (en)
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is http://linked.open...ain/vavai/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2003/NM7615/ico-00023736 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2004/NM7615/ico-00023736 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2005/NM7615/ico-00023736 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2006/NM7615/ico-00023736

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