Publications:

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.

Nature Communications

Yamamura, Tomohiko T; Horinouchi, Tomoko T; Adachi, Tomomi T; Terakawa, Maki M; Takaoka, Yutaka Y; Omachi, Kohei K; Takasato, Minoru M; Takaishi, Kiyosumi K; Shoji, Takao T; Onishi, Yoshiyuki Y; Kanazawa, Yoshito Y; Koizumi, Makoto M; Tomono, Yasuko Y; Sugano, Aki A; Shono, Akemi A; Minamikawa, Shogo S; Nagano, China C; Sakakibara, Nana N; Ishiko, Shinya S; Aoto, Yuya Y; Kamura, Misato M; Harita, Yutaka Y; Miura, Kenichiro K; Kanda, Shoichiro S; Morisada, Naoya N; Rossanti, Rini R; Ye, Ming Juan MJ; Nozu, Yoshimi Y; Matsuo, Masafumi M; Kai, Hirofumi H; Iijima, Kazumoto K; Nozu, Kandai K

Publication Date: 2020-06-02

Variant appearance in text: COL4A5: 1350_1351delAT; Ile450Metfs*2

PubMed Link: 32488001

Variant Present in the following documents:

• Main text

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