Development and clinical application of the immunochromatography for a citrin protein

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Citrin deficiency causes neonatal intrahepatic cholestasis caused by citrin deficiency, and adult-onset type II citrullinemia. Diagonosis of citrin deficiency is mainly performed by genetic analysis, although the known mutations are not detected in some cases. Western blot analysis is also performed for citrin deficiency. The use of Western blot analysis is very few because it is time-consuming. Immunochromatography is recently developed detection method, which is easy and quick. The aim of this project is to examine citrin protein in oral mucosae by using immunochromatography as an alternative diagnostic method. In this project, the development of immunochromatography for a citrin protein was not completed.