A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology - Tập 132 - Trang 2342-2349 - 2012
Atsushi Fujimoto1,2, Muhammad Farooq1, Hiroki Fujikawa1,2, Asuka Inoue3, Manabu Ohyama4, Ritsuko Ehama5, Jotaro Nakanishi5, Motofumi Hagihara5, Tokuro Iwabuchi5, Junken Aoki3, Masaaki Ito2, Yutaka Shimomura1
1Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
2Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
3Laboratory of Molecular and Cellular Biochemistry, Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan
4Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
5Shiseido Research Center, Shin-Yokohama, Japan

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