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Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.
Gono T, Yazaki M, Agematsu K, Matsuda M, Yasui K, Yamaura M, Hidaka F, Mizukami T, Nunoi H, Kubota T, Ikeda S. Gono T, et al. Among authors: hidaka f. Intern Med. 2008;47(11):1053-6. doi: 10.2169/internalmedicine.47.0919. Epub 2008 Jun 2. Intern Med. 2008. PMID: 18520120 Free article.
Successful bone marrow transplantation in chronic granulomatous disease.
Miki M, Ono A, Awaya A, Miyagawa S, Onodera R, Kurita E, Hiraoka A, Hidaka F, Mizukami T, Nunoi H, Kobayashi M. Miki M, et al. Among authors: hidaka f. Pediatr Int. 2009 Dec;51(6):838-41. doi: 10.1111/j.1442-200X.2009.02931.x. Pediatr Int. 2009. PMID: 20158628 No abstract available.
19 results