Identification of a large deletion of the <em>MECP2</em> gene and analysis of the gene expression in a patient with severe phenotype of Rett syndrome

Kumiko Yanagi; Manami Iso; Meiko Takeshita; Kazuhito Satou; Tadashi Kaname

[1P-0677] Identification of a large deletion of the MECP2 gene and analysis of the gene expression in a patient with severe phenotype of Rett syndrome

〇Kumiko Yanagi¹, Manami Iso¹, Meiko Takeshita¹, Kazuhito Satou¹, Tadashi Kaname¹ (1.Dept. of Genome Med, NCCHD)

Hereditary disease, Rett syndrome, MECP2, X-inactivation, Developmental regression

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The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0677] Identification of a large deletion of the MECP2 gene and analysis of the gene expression in a patient with severe phenotype of Rett syndrome

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