Clinical and genetic characteristics of Japanese nephronophthisis patients
نویسندگان
چکیده
منابع مشابه
Genetic Characteristics of Japanese Clinical Listeria monocytogenes Isolates
Listeria monocytogenes causes foodborne illnesses through consumption of ready-to-eat foods. Although 135-201annual listeriosis cases have been estimated in Japan, the details regarding the clinical isolates such as infection source, virulence level, and other genetic characteristics, are not known. In order to uncover the trends of listeriosis in Japan and use the knowledge for prevention meas...
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BACKGROUND Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinical population in Brazil. METHODS Seventy-four patients presenting with dystonia involving the cer...
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ژورنال
عنوان ژورنال: Clinical and Experimental Nephrology
سال: 2015
ISSN: 1342-1751,1437-7799
DOI: 10.1007/s10157-015-1180-5