Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]

K. Tamai; T. Murai; M. Mayama; A. Kon; K. Nomura; D. Sawamura; K. Hanada; I. Hashimoto; H. Shimizu; T. Masunaga; T. Nishikawa; Y. Mitsuhashi; A. Ishida- Yamamoto; S. Ikeda; H. Ogawa; J. A. McGrath; L. Pulkkinen; J. Uitto

doi:10.1046/j.1523-1747.1999.00601.x

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]

K. Tamai
, T. Murai
, M. Mayama
, A. Kon
, K. Nomura
, D. Sawamura
, K. Hanada
, I. Hashimoto
, H. Shimizu
, T. Masunaga
, T. Nishikawa
, Y. Mitsuhashi
, A. Ishida- Yamamoto
, S. Ikeda
, H. Ogawa
, J. A. McGrath
, L. Pulkkinen
, J. Uitto

皮膚學科

研究成果: Letter › 同行評審

35 引文斯高帕斯（Scopus）

原文	English
頁（從 - 到）	991-993
頁數	3
期刊	Journal of Investigative Dermatology
卷	112
發行號	6
DOIs	https://doi.org/10.1046/j.1523-1747.1999.00601.x
出版狀態	Published - 1999

UN SDG

此研究成果有助於以下永續發展目標

SDG 3 良好的健康和福祉

All Science Journal Classification (ASJC) codes

生物化學
分子生物學
皮膚科
細胞生物學

存取文件

10.1046/j.1523-1747.1999.00601.x

其它文件與鏈接

引用此

Tamai, K., Murai, T., Mayama, M., Kon, A., Nomura, K., Sawamura, D., Hanada, K., Hashimoto, I., Shimizu, H., Masunaga, T., Nishikawa, T., Mitsuhashi, Y., Ishida- Yamamoto, A., Ikeda, S., Ogawa, H., McGrath, J. A., Pulkkinen, L., & Uitto, J. (1999). Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]. Journal of Investigative Dermatology, 112(6), 991-993. https://doi.org/10.1046/j.1523-1747.1999.00601.x

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title = "Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]",

author = "K. Tamai and T. Murai and M. Mayama and A. Kon and K. Nomura and D. Sawamura and K. Hanada and I. Hashimoto and H. Shimizu and T. Masunaga and T. Nishikawa and Y. Mitsuhashi and \{Ishida- Yamamoto\}, A. and S. Ikeda and H. Ogawa and McGrath, \{J. A.\} and L. Pulkkinen and J. Uitto",

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Tamai, K, Murai, T, Mayama, M, Kon, A, Nomura, K, Sawamura, D, Hanada, K, Hashimoto, I, Shimizu, H, Masunaga, T, Nishikawa, T, Mitsuhashi, Y, Ishida- Yamamoto, A, Ikeda, S, Ogawa, H, McGrath, JA, Pulkkinen, L & Uitto, J 1999, 'Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]', Journal of Investigative Dermatology, 卷 112, 編號 6, 頁 991-993. https://doi.org/10.1046/j.1523-1747.1999.00601.x

TY - JOUR

T1 - Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa

T2 - Positional effects of premature termination codon mutations on clinical severity [1]

AU - Tamai, K.

AU - Murai, T.

AU - Mayama, M.

AU - Kon, A.

AU - Nomura, K.

AU - Sawamura, D.

AU - Hanada, K.

AU - Hashimoto, I.

AU - Shimizu, H.

AU - Masunaga, T.

AU - Nishikawa, T.

AU - Mitsuhashi, Y.

AU - Ishida- Yamamoto, A.

AU - Ikeda, S.

AU - Ogawa, H.

AU - McGrath, J. A.

AU - Pulkkinen, L.

AU - Uitto, J.

PY - 1999

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U2 - 10.1046/j.1523-1747.1999.00601.x

DO - 10.1046/j.1523-1747.1999.00601.x

M3 - Letter

C2 - 10383751

AN - SCOPUS:0033040811

SN - 0022-202X

VL - 112

SP - 991

EP - 993

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

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