논문KCI 등재
A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene
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참고문헌 (5)
- "Dermatologica", 1946, 304~
- Chen J, "Novel glycine substitution G2037R of COL7A1 in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E", Indian J Dermatol Venereol Leprol, 83, pp.229~231 (2017)
- Cunningham L, "Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype", J Eur Acad Dermatol Venereol, 30, pp.e115~ (2016)
- Kitazawa T, "Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa", J Dermatol, 41, pp.1018~1019 (2014)
- Betts CM, "Pretibial dystrophic epidermolysis bullosa : a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing", Br J Dermatol, 141, pp.833~839 (1999)
관련 논문AI추천
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome SequencingAbdelaziz Elahlafi, Anu Bashamboo, Chaima Ben Fayala, Houda Yacoub Youssef, Kenneth McElreavey, Mariem Chargui, Mohamed Samir Boubaker, Mourad Mokni, Nadia Laroussi, Olfa Messaoud, Sonia Abdelhak대한피부과학회 · Annals of Dermatology2017 · 제29권 제2호A Case of Non-Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa강교신, 김애숙, 서무규, 최성민, Dong Hoon Kim, Jae Hong Kim, Woo Tae Ko대한피부과학회 · Annals of Dermatology2009 · 제21권 제1호A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 GeneFukumiFurukawa, Hazuki Yasuda, Minao Furumura, Mitsuhiro Matsuda, Nobuo Kanazawa, Takahiro Hamada, Takashi Hashimoto, Takekuni Nakama대한피부과학회 · Annals of Dermatology2017 · 제29권 제5호A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa SimplexGu Feng, Jiang Xin, Sun Huihui, Zhu Yingyu대한피부과학회 · Annals of Dermatology2021 · 제33권 제1호Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous C O L 7A1 Variants권혁진, 김기호, 김남희, 유동화, 윤정호대한피부과학회 · Annals of Dermatology2023 · 제35권 제1호Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene김성애, 류한원, 이규석, 조재위, Hajime Nakano대한피부과학회 · Annals of Dermatology2014 · 제26권 제6호
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