8 EYSeyes shut homolog Drosophila Novel EYS gene mutants inducing Retinitis Pigmentosa and uses thereof

The present invention relates to eight EYS gene mutants available for the diagnosis of retinitis pigmentosa, a method for detecting the EYS gene mutants, a method for diagnosing retinitis pigmentosa using the EYS gene mutants, a composition for diagnosing retinitis pigmentosa, comprising an agent co...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	MOON TAESIK, LEE EUN JU, LEE, JONG YOUNG, OH JIHEE, CHOI JEONGNAM, LEE DONGHEE, LEE DONG WOO
Format:	Patent
Sprache:	eng ; kor
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS VINEGAR WINE
Online-Zugang:	Volltext bestellen
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	The present invention relates to eight EYS gene mutants available for the diagnosis of retinitis pigmentosa, a method for detecting the EYS gene mutants, a method for diagnosing retinitis pigmentosa using the EYS gene mutants, a composition for diagnosing retinitis pigmentosa, comprising an agent confirming the presence of the EYS gene mutants, and a kit for diagnosing retinitis pigmentosa comprising the composition. 본 발명은 망막색소변성증의 진단에 이용가능한 8개의 EYS 유전자 돌연변이체, 상기 EYS 유전자의 돌연변이체를 검출한는 방법, 상기 EYS 유전자의 돌연변이체를 이용하여 망막색소 변성증을 진단하는 방법, 상기 EYS 유전자의 돌연변이체의 존재 여보를 확인하는 제제를 포함하는 망막색소변성증 진단용 조성물 및 상기 조성물을 포함하는 망막색소변성증 진단용 키트에 관한 것이다.