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

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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