A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.
| Autor: | Akasaka E; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Rokunohe D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Nakano H; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan., Yamatani S; Kiku Hifuka Dermatology Clinic, Hachinohe, Japan., Sawamura D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. |
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| Jazyk: | angličtina |
| Zdroj: | The Journal of dermatology [J Dermatol] 2024 Mar; Vol. 51 (3), pp. e74-e76. Date of Electronic Publication: 2023 Oct 18. |
| DOI: | 10.1111/1346-8138.16993 |
| Databáze: | MEDLINE |
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