A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype

Autor: Muneo Tanita, Yoshinori Miyamura, Yasushi Tomita, Miwako Dakeishi-Hara, Kanako Kikuchi, Jun Matsunaga, Masutaka Furue, Yoichi Nagata, Eriko Nakamura, Margit Nindl

Publikováno v: Dermatology (Basel, Switzerland). 199(2)

Background: Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair. Objective: We studied a Japanese girl who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d82cff23a8f512a9a0601fccf59a9c
https://pubmed.ncbi.nlm.nih.gov/10559577

In Memoriam / Announcements

Autor: Yukitoshi Yamaguchi, W. Skarabis, R.J.A. Wanders, H.S. Zackheim, A.G. Knight, Z. Demetriou, Noriaki Shinomiya, K. Nakamura, Jean-Charles Piette, K. Peris, A. Carrassi, Sylvie Legrain, T. Murakami, B. Bjarnason, G. Orecchia, J. Rey, Felix Heitzmann, Masakazu Asahi, Ryuzo Saito, Kanako Kikuchi, P. Elsner, Osamu Yamamoto, B. Granel, S. Dhar, A. Sardella, Masahisa Watanabe, Margit Nindl, A. Katsambas, G. Sacerdoti, Marie-Sylvie Doutre, Caroline Roudier-Pujol, J. Economidou, Itsuro Matsuo, S. Yano, Masayuki Amagai, O. Avcı, Leila Jeskanen, G. Kaya, Arja-Leena Kariniemi, Anne Auperin, S. Chimenti, D. Degiannis, Marie Beylot Barry, Hiroko Gomi, Hiromi Kazama, François Laurent, G.K. Patel, F. Châtillon, Peter Itin, G. Lodi, M. Yoshida, C. Bez, T. Fischer, Stubb S, P.J. Weiller, Takaaki Kobayashi, Emilio Berti, C. Beylot, P.M. Steijlen, M.A. de Rie, Kayo Yamaguchi, Tamihiro Kawakami, J. Cilliers, Hachiro Tagami, E. Flosadóttir, S.E. Shephard, G. Avgerinou, R.G. Panizzon, Ikuo Murata, Tapio Rantanen, Xavier Roques, M.A.A.P. Willemsen, Yasushi Tomita, A. Rebora, Elvio Alessi, Thiem Nguyen, G. Kolde, W. Sterry, Nobuko Tabata, Yoshinori Miyamura, A.T. Güneş, H. Audring, Peter Schiller, J. Stock, L. Presenti, Misako Tanaka, C. de Beer, Tugutoshi Aoki, V. Marlière, Patrick Blanco, Muneo Tanita, Claire Beylot, C. Romano, E. Ellidokuz, Masahiro Hara, J. Serratrice, A. Oga, I. Şimşek, H. Ihn, A. Denizot, J.J. Rotteveel, Yoichi Nagata, Marie-Fançoise Avril, B. Büyükgebiz, Kentaro Yoshinaga, A. Köhler, C. Chizzolini, A. Vareltzidis, Angelo V. Marzano, Ellen Benhamou, A. Della Volpe, R.U. Peter, Eriko Nakamura, P. Berbis, Jun Matsunaga, Pierre Duvillard, M. Beylot-Barry, M. Muto, M. Fazio, Masutaka Furue, K. Tamaki, S.M. Clark, S.K. Todi, Gilles Raguin, M.-S. Doutre, Yoshinao Fujikawa, L. Muscardin, T. Shimizu, F. Drago, E. Ranieri, C. Hauser, K. Psarra, J. Barkis, L. Lupica, Ichiro Katayama, P. Disdier, M.M.U. Chowdhury, Akira Kawada, L. Massai, H. Okochi, Sandra Ly, H. Gall, Miwako Dakeishi-Hara, Hiroaki Aoyama, Fumihide Ogawa, Antti Lauerma, Hirotsugu Yamanouchi, M. Worm, Bernhard Stamm, L. Borradori

Publikováno v: Dermatology. 199:199-199

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::435576ff793add6d00402d3b9604baf0
https://doi.org/10.1159/000018248