Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

Ken Yamamoto; Eiichi Ishii; Hisanori Horiuchi; Ikuyo Ueda; Shouichi Ohga; Masanori Nishi; Yoshiyasu Ogata; Masafumi Zaitsu; Akira Morimoto; Toshiro Hara; Shinsaku Imashuku; Takehiko Sasazuki; Masaki Yasukawa

doi:10.1007/s10038-005-0293-1

Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

Ken Yamamoto, Eiichi Ishii, Hisanori Horiuchi, Ikuyo Ueda, Shouichi Ohga, Masanori Nishi, Yoshiyasu Ogata, Masafumi Zaitsu, Akira Morimoto, Toshiro Hara, Shinsaku Imashuku, Takehiko Sasazuki, Masaki Yasukawa

生殖発達医学

研究成果: ジャーナルへの寄稿 › 学術誌 › 査読

18 被引用数 (Scopus)

抄録

Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. We evaluated mutations of syntaxin 11 and SNAP23 genes in 30 Japanese FHL patients. The patients had no mutations and 10% had one polymorphism (146G>A) of syntaxin 11, while no mutation of SNAP23 was observed. Our results indicate that aberrations in the SNARE system may not cause FHL in Japanese families.

本文言語	英語
ページ（範囲）	600-603
ページ数	4
ジャーナル	Journal of Human Genetics
巻	50
号	11
DOI	https://doi.org/10.1007/s10038-005-0293-1
出版ステータス	出版済み - 11月 2005

!!!All Science Journal Classification (ASJC) codes

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1007/s10038-005-0293-1

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フィンガープリント

「Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル

Yamamoto, K., Ishii, E., Horiuchi, H., Ueda, I., Ohga, S., Nishi, M., Ogata, Y., Zaitsu, M., Morimoto, A., Hara, T., Imashuku, S., Sasazuki, T., & Yasukawa, M. (2005). Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. Journal of Human Genetics, 50(11), 600-603. https://doi.org/10.1007/s10038-005-0293-1

Yamamoto, K, Ishii, E, Horiuchi, H, Ueda, I, Ohga, S, Nishi, M, Ogata, Y, Zaitsu, M, Morimoto, A, Hara, T, Imashuku, S, Sasazuki, T & Yasukawa, M 2005, 'Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people', Journal of Human Genetics, vol. 50, no. 11, pp. 600-603. https://doi.org/10.1007/s10038-005-0293-1

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abstract = "Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. We evaluated mutations of syntaxin 11 and SNAP23 genes in 30 Japanese FHL patients. The patients had no mutations and 10% had one polymorphism (146G>A) of syntaxin 11, while no mutation of SNAP23 was observed. Our results indicate that aberrations in the SNARE system may not cause FHL in Japanese families.",

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T1 - Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

AU - Yamamoto, Ken

AU - Ishii, Eiichi

AU - Horiuchi, Hisanori

AU - Ueda, Ikuyo

AU - Ohga, Shouichi

AU - Nishi, Masanori

AU - Ogata, Yoshiyasu

AU - Zaitsu, Masafumi

AU - Morimoto, Akira

AU - Hara, Toshiro

AU - Imashuku, Shinsaku

AU - Sasazuki, Takehiko

AU - Yasukawa, Masaki

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