首页> 外文OA文献 >Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

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Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

机译：隐性甘氨酸取代和COL7A1基因的剪接位点突变的复合杂合性导致局限性隐性营养不良性表皮松解症的异常轻度形式。

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Terracina Michela; Posteraro Patrizia; Zambruno Giovanna; Castiglia Daniele; Schubert Margit; Sonego Giulio; Atzori Francesco; Bruckner-Tuderman Leena;
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年度 1998
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1. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. [J] . Terracina M, Posteraro P, Schubert M, The Journal of investigative dermatology. . 1998,第5期

机译：隐性甘氨酸替代的复合杂合性和COL7A1基因的剪接位点突变导致异常轻度的局限性隐性营养不良性表皮松解性大疱。
2. Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation [J] . Turcynski S., Titeux M., Pironon N., British Journal of Dermatology . 2016,第5期

机译：营养不良性表皮松解性大疱中明显的家族内表型异质性，由轻度优势甘氨酸取代和新型深度内含子隐性COL7A1突变引起
3. Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. [J] . Drera B, Floriddia G, Forzano F British Journal of Dermatology . 2009,第2期

机译：轻度隐性营养不良性表皮松解性大疱的分支点和供体剪接位点COL7A1突变。
4. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
5. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. [O] . A. M. Christiano, I. Anton-Lamprecht, S. Amano, 1996

机译：患有营养不良性表皮松解的双胞胎中COL7A1突变的复合杂合性：隐性父亲缺失/插入突变和显性阴性母体甘氨酸替代导致严重的表型。
6. 237 Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa [O] . S. Duchatelet, N. Pironon, S. Miskinyte, 2017

机译：237营养不良表皮溶解症中显性和隐性COL7A1突变复方杂合性的诊断挑战
7. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa [R] . Mahoney, M. G. , Rodeck, U. , Uitto, J. 2006

机译：隐性营养不良性大疱性表皮松解症鳞状细胞癌的分子特征

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

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