Article
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.
British journal of haematology - 1 May 2005
Kanegane Hirokazu, Kasahara Yoshihito, Okamura Jun, Hongo Teruaki, Tanaka Rieko, Nomura Keiko, Kojima Seiji, Miyawaki Toshio
Abstract excerpt
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. X-linked recessive inheritances are recognized in approximately 40% of the patients. DKC1 has been identified as the gene responsible for X-linked DC, and genetic analyses have been performed in a worldwide study. Here, we performed genetic analysis...
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