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

Department of Dermatology

Research output: Contribution to journal › Letter › peer-review

34 Citations (Scopus)

Original language	English
Pages (from-to)	991-993
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	112
Issue number	6
DOIs	https://doi.org/10.1046/j.1523-1747.1999.00601.x
Publication status	Published - 1999

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology
Cell Biology

Access to Document

10.1046/j.1523-1747.1999.00601.x

Cite this

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

@article{bcbce9a0872c4c8a883525c1d654233b,

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",

year = "1999",

doi = "10.1046/j.1523-1747.1999.00601.x",

language = "English",

volume = "112",

pages = "991--993",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

number = "6",

}

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, vol. 112, no. 6, pp. 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

Y1 - 1999

UR - http://www.scopus.com/inward/record.url?scp=0033040811&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033040811&partnerID=8YFLogxK

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

IS - 6

ER -

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

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Cite this