Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members.
Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan. hnagai@med.kobe-u.ac.jp.
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Nagai
Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
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Oiso
Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
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Tomida
Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
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Sakai
Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
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Fujiwara
Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan.
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Y
Nakamachi
Division of Laboratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
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Kawano
Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
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Kawada
Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
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Nishio
Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
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Nishigori
D000328:Adult; D000505:Alopecia / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence
C503940:KRT5 protein, human; D053555:Keratin-5