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Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils.

作者信息

Komori Takaya, Dainichi Teruki, Otsuka Atsushi, Nakano Hajime, Sawamura Daisuke, Ishida-Yamamoto Akemi, Kabashima Kenji

机构信息

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

出版信息

J Dermatol. 2018 Nov;45(11):e305-e306. doi: 10.1111/1346-8138.14337. Epub 2018 Apr 25.

DOI:10.1111/1346-8138.14337
PMID:29696689
Abstract
摘要

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Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils.轻度营养不良性大疱性表皮松解症与VII型胶原蛋白纯合基因突变c.6216+5G>T相关，超微结构提示锚定原纤维数量减少。
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A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.1例隐性营养不良型大疱性表皮松解症患者，其COL7A1基因存在一种新的c.6885_6898del14突变。
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Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.营养不良性大疱性表皮松解症中锚定原纤维的结构变异：与VII型胶原蛋白表达的相关性
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Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.显性营养不良型大疱性表皮松解症大鼠模型：甘氨酸取代降低 VII 型胶原稳定性并显示出基因剂量效应。
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