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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T. Yamaguchi N, et al. Among authors: osame m. Hum Mutat. 2002 Feb;19(2):122-30. doi: 10.1002/humu.10022. Hum Mutat. 2002. PMID: 11793471
Pleural cryptococcosis with idiopathic CD4 positive T-lymphocytopenia.
Kawabata T, Matsuyama W, Higashimoto I, Koreeda Y, Eiraku N, Kawabata M, Osame M. Kawabata T, et al. Among authors: osame m. Intern Med. 2004 Oct;43(10):977-81. doi: 10.2169/internalmedicine.43.977. Intern Med. 2004. PMID: 15575251 Free article. Retracted.
Hermansky-Pudlak syndrome with a novel mutation.
Iwakawa J, Matsuyama W, Watanabe M, Yamamoto M, Oonakahara K, Machida K, Higashimoto I, Niiyama T, Osame M, Arimura K. Iwakawa J, et al. Among authors: osame m. Intern Med. 2005 Jul;44(7):733-8. doi: 10.2169/internalmedicine.44.733. Intern Med. 2005. PMID: 16093596 Free article.
675 results