• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.

作者信息

Al-Zahrani Hams S, Al-Tala Saeed, Mohamoud Hussein S A, Al-Shehri Bandar A, Al-Fadhel Saeed, Al-Qurashi Ali, Al-Bishri Ahmad, Al-Aama Jumana Y, Kang Changsoo, Betz Regina C, Jelani Musharraf

机构信息

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders|, King Abdulaziz University, Jeddah, Saudi Arabia.

出版信息

Congenit Anom (Kyoto). 2019 May;59(3):99-101. doi: 10.1111/cga.12294. Epub 2018 Jul 6.

DOI:10.1111/cga.12294
PMID:29900604
Abstract
摘要

相似文献

1
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.来自沙特阿拉伯的两名父系半兄弟中，层粘连蛋白亚基β3基因的新型复合杂合和纯合变异是导致非赫利茨交界性大疱性表皮松解症的原因。
Congenit Anom (Kyoto). 2019 May;59(3):99-101. doi: 10.1111/cga.12294. Epub 2018 Jul 6.
2
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
Hum Mol Genet. 1994 Oct;3(10):1909-10. doi: 10.1093/hmg/3.10.1909.
3
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.两个日本无关家族共有的LAMB3基因新突变与赫利茨交界性大疱性表皮松解症及其在产前检测中的应用
J Invest Dermatol. 1998 Feb;110(2):174-8. doi: 10.1046/j.1523-1747.1998.00105.x.
4
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.致死性（赫利茨）交界性大疱性表皮松解症中，层粘连蛋白5（LAMA3）α3链基因的纯合无义突变。
Hum Mol Genet. 1995 May;4(5):959-62. doi: 10.1093/hmg/4.5.959.
5
Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.Herlitz交界性大疱性表皮松解症中LAMC2基因的新型复合杂合突变（c.79G>A和382insT）
J Dermatol. 2014 Apr;41(4):322-4. doi: 10.1111/1346-8138.12413. Epub 2014 Feb 18.
6
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.一名患有赫利茨交界性大疱性表皮松解症患者的LAMB3基因第14外显子纯合单碱基对缺失的鉴定及对有复发风险家庭的产前诊断。
J Invest Dermatol. 1995 Apr;104(4):462-6. doi: 10.1111/1523-1747.ep12605898.
7
Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family.检测到一个约旦家族中交界型遗传性大疱性表皮松解症的新型 LAMA3 突变。
Australas J Dermatol. 2013 Aug;54(3):218-21. doi: 10.1111/j.1440-0960.2012.00945.x. Epub 2012 Sep 11.
8
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area.日本一例赫利茨交界型大疱性表皮松解症病例，最初在有限区域出现少量水疱。
J Dermatol. 2014 Apr;41(4):351-3. doi: 10.1111/1346-8138.12441. Epub 2014 Mar 12.
9
Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.大疱性表皮松解症的基因分析：三个家族中LAMB3和COL7A1基因的突变鉴定
J Dermatol Sci. 2013 Oct;72(1):72-4. doi: 10.1016/j.jdermsci.2013.05.002. Epub 2013 May 23.
10
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.赫尔利茨交界型大疱性表皮松解症：意大利人群中层粘连蛋白-5的突变谱及携带频率。
Br J Dermatol. 2008 Jan;158(1):38-44. doi: 10.1111/j.1365-2133.2007.08208.x. Epub 2007 Oct 4.

引用本文的文献

1
Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis.在中东阿拉伯家庭中鉴定大疱性表皮松解症的新型基因变异：来自全外显子组测序和计算分析的见解。
PLoS One. 2025 Sep 16;20(9):e0328296. doi: 10.1371/journal.pone.0328296. eCollection 2025.