一种新的插入缺失型COL7A1突变8068del17insGA导致显性营养不良型大疱性表皮松解症。 - Suppr

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超能文献

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.

作者信息

Sawamura D, Nizeki H, Miyagawa S, Shinkuma S, Shimizu H

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

Br J Dermatol. 2006 May;154(5):995-7. doi: 10.1111/j.1365-2133.2006.07148.x.

DOI:10.1111/j.1365-2133.2006.07148.x

PMID:16634910

Abstract

摘要

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A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.一种新的插入缺失型COL7A1突变8068del17insGA导致显性营养不良型大疱性表皮松解症。

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Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.COL7A1中同一密码子处不同氨基酸的甘氨酸替代突变导致营养不良性大疱性表皮松解症的不同遗传模式。

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A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.COL7A1基因中的一种新型错义突变是大疱性类天疱疮性痒疹的基础。

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A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.一例由COL7A1基因复合杂合突变引起的隐性营养不良型大疱性表皮松解症。

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Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.荷兰隐性营养不良型大疱性表皮松解症患者的长期随访：突变数据库的扩展及不寻常的表型-基因型相关性

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The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.COL7A1基因中的G2028R甘氨酸替代突变导致显性营养不良性大疱性表皮松解症存在明显的家系间临床异质性。

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Clin Cosmet Investig Dermatol. 2025 Jan 21;18:183-190. doi: 10.2147/CCID.S499144. eCollection 2025.

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.用于纠正源自显性营养不良性大疱性表皮松解症的诱导多能干细胞的位点特异性基因组编辑。

Proc Natl Acad Sci U S A. 2016 May 17;113(20):5676-81. doi: 10.1073/pnas.1512028113. Epub 2016 May 3.

Dystrophic epidermolysis bullosa: a review.营养不良性大疱性表皮松解症：综述

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