Listar por autor "Kubota, Akatsuki"

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Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele, Valentina; Kubota, Akatsuki; Garcia Diaz, Beatriz; Garone, Caterina; Akman, Hasan O; Sánchez-Gutiérrez, Daniel; Escudero, Luis M.; Kariya, Shingo; Homma, Shunichi; Tanji, Kurenai; Quinzii, Catarina M.; Hirano, Michio[et al.] (Oxford Academic, 2014-09-30)

A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal ...