Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

GHS Ashton; JA McGrath; JE Mellerio; MGS Dunnill; RAJ Eady

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Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

机译：营养不良性表皮松解性大疱性VII型胶原基因（COL7A1）的异质突变。

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《Clinical Science》 |2000年第s42期|共页
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GHS Ashton; JA McGrath; JE Mellerio; MGS Dunnill; RAJ Eady;
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中图分类临床医学;
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1. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. [J] . Rouan F, Pulkkinen L, Jonkman MF, The Journal of investigative dermatology. . 1998,第6期

机译：营养不良性大疱性表皮松解的VII型胶原基因（COL7A1）中的新型和从头甘氨酸替代突变：对遗传咨询的意义。
2. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. [J] . Kon A, McGrath JA, Pulkkinen L, The Journal of investigative dermatology. . 1997,第2期

机译：营养不良性大疱性表皮松解的VII型胶原基因（COL7A1）中的甘氨酸替代突变：对遗传咨询的意义。
3. Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). [J] . Iwata T, Nakano H, Nakano A, The Journal of dermatology . 2006,第8期

机译：由新的G2037R突变和VII型胶原蛋白基因（COL7A1）中已知的G2028R突变引起的营养不良性大疱性表皮松解。
4. Epidermolysis Bullosa A Genetic Disease of Altered Cell Adhesion and Wound Healing, and the Possible Clinical Utility of Topically Applied Thymosin β4 [C] . JO-DAVID FINE International Symposiumn on Thymosins in Health and Disease; 20070321-24; Washington,DC(US) . 2007

机译：大表皮松解症一种细胞粘附和伤口愈合改变的遗传疾病，以及局部应用胸腺素β4的可能临床应用
5. 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。
6. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. [O] . R. Gardella, L. Belletti, N. Zoppi, 1996

机译：鉴定受隐性营养不良性表皮松解性大疱性局限变体影响的患者的VII型胶原基因（COL7A1）中的两个剪接突变。
7. Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa [O] . Mellerio Jemima E., Dunnill M.Giles S., Allison Waridibe, 1997

机译：隐性营养不良性表皮松解性大疱性肝炎患者VII型胶原基因（COL7A1）的反复突变
8. 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

Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

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