Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease

Naohiko Harada, Takashi Sugimura, Rie Yoshimura, Seiji Motomura, Shuya Shirahama, Jun Ichi Naramoto, Yoshiharu Chijiiwa, Kazuhiko Nakamura, Ken Ichi Ito, Hajime Nawata

研究成果: ジャーナルへの寄稿記事

13 引用 (Scopus)

抄録

We report a novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. A 46-year-old Japanese man and his mother were diagnosed as having Cowden disease. Their physical examinations revealed multiple facial trichilemmoma, oral mucosal papillomatosis, palmoplantar keratosis, and gastrointestinal polyposis. The single-strand conformation polymorphism (SSCP) analysis showed an abnormal band on exon 7 of their PTEN gene. Direct sequence analysis of exon 7 detected a TAAA insertion to codon 221, producing a stop codon (c.663ins TAAA).

元の言語英語
ページ(範囲)87-91
ページ数5
ジャーナルJournal of gastroenterology
38
発行部数1
DOI
出版物ステータス出版済み - 1 1 2003

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Multiple Hamartoma Syndrome
Germ-Line Mutation
Exons
Palmoplantar Keratoderma
Terminator Codon
Papilloma
Codon
Genes
Physical Examination
Sequence Analysis
Mothers

All Science Journal Classification (ASJC) codes

  • Gastroenterology

これを引用

Harada, N., Sugimura, T., Yoshimura, R., Motomura, S., Shirahama, S., Naramoto, J. I., ... Nawata, H. (2003). Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. Journal of gastroenterology, 38(1), 87-91. https://doi.org/10.1007/s005350300012

Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. / Harada, Naohiko; Sugimura, Takashi; Yoshimura, Rie; Motomura, Seiji; Shirahama, Shuya; Naramoto, Jun Ichi; Chijiiwa, Yoshiharu; Nakamura, Kazuhiko; Ito, Ken Ichi; Nawata, Hajime.

:: Journal of gastroenterology, 巻 38, 番号 1, 01.01.2003, p. 87-91.

研究成果: ジャーナルへの寄稿記事

Harada, N, Sugimura, T, Yoshimura, R, Motomura, S, Shirahama, S, Naramoto, JI, Chijiiwa, Y, Nakamura, K, Ito, KI & Nawata, H 2003, 'Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease', Journal of gastroenterology, 巻. 38, 番号 1, pp. 87-91. https://doi.org/10.1007/s005350300012
Harada N, Sugimura T, Yoshimura R, Motomura S, Shirahama S, Naramoto JI その他. Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. Journal of gastroenterology. 2003 1 1;38(1):87-91. https://doi.org/10.1007/s005350300012
Harada, Naohiko ; Sugimura, Takashi ; Yoshimura, Rie ; Motomura, Seiji ; Shirahama, Shuya ; Naramoto, Jun Ichi ; Chijiiwa, Yoshiharu ; Nakamura, Kazuhiko ; Ito, Ken Ichi ; Nawata, Hajime. / Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. :: Journal of gastroenterology. 2003 ; 巻 38, 番号 1. pp. 87-91.
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