一名患有新生儿大疱性皮肤松解症的日本患者中，新的/复发性COL7A1突变的复合杂合子。 - Suppr

The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.

作者信息

Hashikawa Keiko, Hamada Takahiro, Ishii Norito, Fukuda Shunpei, Kuroki Rie, Nakama Takekuni, Yasumoto Shinichiro, Tamai Katsuto, Nakano Hajime, Sawamura Daisuke, Hashimoto Takashi

出版信息

J Dermatol Sci. 2009 Oct;56(1):66-8. doi: 10.1016/j.jdermsci.2009.06.011. Epub 2009 Jul 29.

DOI:10.1016/j.jdermsci.2009.06.011

PMID:19643583

Abstract

摘要

相似文献

The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.一名患有新生儿大疱性皮肤松解症的日本患者中，新的/复发性COL7A1突变的复合杂合子。

J Dermatol Sci. 2009 Oct;56(1):66-8. doi: 10.1016/j.jdermsci.2009.06.011. Epub 2009 Jul 29.

Transient bullous dermolysis of the newborn in three generations.三代人中新生儿的短暂性大疱性皮肤松解症。

Br J Dermatol. 2005 Nov;153(5):1058-63. doi: 10.1111/j.1365-2133.2005.06873.x.

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

J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8.

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。

Br J Dermatol. 2006 Oct;155(4):838-40. doi: 10.1111/j.1365-2133.2006.07397.x.

Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly.

Br J Dermatol. 2007 Jul;157(1):179-82. doi: 10.1111/j.1365-2133.2007.07955.x. Epub 2007 May 14.

A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.一个患有显性胫前营养不良性大疱性表皮松解症的日本家庭：在VII型胶原三螺旋胶原结构域中鉴定出一种新的甘氨酸替代。

J Dermatol Sci. 2009 Jun;54(3):212-4. doi: 10.1016/j.jdermsci.2009.02.003. Epub 2009 Mar 9.

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.一个大型近亲突尼斯家族中的营养不良性大疱性表皮松解症表型

J Dermatol Sci. 2009 May;54(2):114-20. doi: 10.1016/j.jdermsci.2009.01.006. Epub 2009 Mar 3.

Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.6例携带复发性p.Glu2857X突变的日本隐性营养不良性大疱性表皮松解症患者的基因型-表型相关性

J Dermatol Sci. 2008 Oct;52(1):13-20. doi: 10.1016/j.jdermsci.2008.03.005. Epub 2008 Apr 25.

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.营养不良性大疱性表皮松解症中COL7A1突变的突变分析与特征描述

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x.

Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?胫前大疱性表皮松解症：该病例是否为一种IV型和VII型胶原蛋白缺失的新亚型？

Int J Dermatol. 2009 Aug;48(8):879-81. doi: 10.1111/j.1365-4632.2008.03983.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.

作者信息

出版信息

相似文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献