Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus von Abe, Junya, Izawa, Kazushi, Nishikomori, Ryuta, Awaya, Tomonari, Kawai, Tomoki, Yasumi, Takahiro, Hiragi, Naoko, Hiragi, Toru, Ohshima, Yusei, Heike, Toshio

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A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study von Abe, Junya, Nakamura, Kazuyuki, Nishikomori, Ryuta, Kato, Mitsuhiro, Mitsuiki, Noriko, Izawa, Kazushi, Awaya, Tomonari, Kawai, Tomoki, Yasumi, Takahiro, Toyoshima, Itaru, Hasegawa, Kazuko, Ohshima, Yusei, Hiragi, Toru, Sasahara, Yoji, Suzuki, Yasuhiro, Kikuchi, Masahiro, Osaka, Hitoshi, Ohya, Takashi, Ninomiya, Shinya, Fujikawa, Satoshi, Akasaka, Manami, Iwata, Naomi, Kawakita, Akiko, Funatsuka, Makoto, Shintaku, Haruo, Ohara, Osamu, Ichinose, Hiroshi, Heike, Toshio

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A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study von Abe, J., Nakamura, K., Nishikomori, R., Kato, M., Mitsuiki, N., Izawa, K., Awaya, T., Kawai, T., Yasumi, T., Toyoshima, I., Hasegawa, K., Ohshima, Y., Hiragi, T., Sasahara, Y., Suzuki, Y., Kikuchi, M., Osaka, H., Ohya, T., Ninomiya, S., Fujikawa, S., Akasaka, M., Iwata, N., Kawakita, A., Funatsuka, M., Shintaku, H., Ohara, O., Ichinose, H., Heike, T.

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Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus von Abe, Junya, Izawa, Kazushi, Nishikomori, Ryuta, Awaya, Tomonari, Kawai, Tomoki, Yasumi, Takahiro, Hiragi, Naoko, Hiragi, Toru, Ohshima, Yusei, Heike, Toshio

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