• 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

相似文献

1
A postulated mechanism for deletions with inversions.一种关于缺失合并倒位的假定机制。
Am J Hum Genet. 1993 May;52(5):1016-8.
2
Deletions with inversions: report of a mutation and review of the literature.
Hum Mutat. 1993;2(1):53-7. doi: 10.1002/humu.1380020110.
3
The rates and patterns of deletions in the human factor IX gene.人类凝血因子IX基因的缺失率及缺失模式。
Am J Hum Genet. 1994 Feb;54(2):201-13.
4
Are some apparently simple deletions actually two concerted deletions that result from interacting RY(i) hairpin loops?
Am J Hum Genet. 1995 Jan;56(1):343-6.
5
Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence.
Hum Mol Genet. 1994 Jan;3(1):191-2. doi: 10.1093/hmg/3.1.191.
6
The molecular basis of haemophilia A and B.
Baillieres Clin Haematol. 1996 Jun;9(2):211-28. doi: 10.1016/s0950-3536(96)80059-x.
7
A standard nomenclature for factor VIII and factor IX gene mutations and associated amino acid alterations. On behalf of the ISTH SSC Subcommittee on Factor VIII and Factor IX.
Thromb Haemost. 1994 Sep;72(3):475-6.
8
The factor IX gene as a model for analysis of human germline mutations: an update.
Hum Mol Genet. 1996;5 Spec No:1505-14. doi: 10.1093/hmg/5.supplement_1.1505.
9
Common features of three inversions in wheat chloroplast DNA.小麦叶绿体DNA中三个倒位的共同特征。
Curr Genet. 1988 Apr;13(4):343-9. doi: 10.1007/BF00424430.
10
Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.瑞典血友病B的分子研究。因子IX基因完全缺失且无抑制性抗体患者的鉴定。
Hum Genet. 1988 Dec;81(1):13-7. doi: 10.1007/BF00283721.

引用本文的文献

1
The rates and patterns of deletions in the human factor IX gene.人类凝血因子IX基因的缺失率及缺失模式。
Am J Hum Genet. 1994 Feb;54(2):201-13.
2
Inversions with deletions and duplications.伴有缺失和重复的倒位。
Genetics. 1995 May;140(1):411-4. doi: 10.1093/genetics/140.1.411.

本文引用的文献

1
Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients.在一个有两名抑制物患者的B型血友病家族中，因异常重组导致因子IX基因部分缺失。
Mol Biol Med. 1988 Apr;5(2):95-106.
2
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).人凝血因子IX（抗血友病因子B）基因的核苷酸序列。
Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.
3
Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.两个14碱基对同源序列之间的重组作为因子IX西雅图1中基因缺失的机制。
Am J Hum Genet. 1990 Dec;47(6):1020-2.
4
Somatic mosaicism in a patient with bilateral retinoblastoma.一名双侧视网膜母细胞瘤患者的体细胞镶嵌现象。
Am J Hum Genet. 1990 Jun;46(6):1187-93.
5
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.凝血因子IX马德里2型：凝血因子IX基因中的一种缺失/插入突变，该突变消除了外显子IV-内含子d剪接位点处供体连接的序列。
Am J Hum Genet. 1992 Feb;50(2):434-7.
6
Parental origin of factor IX gene mutations, and their distribution in the gene.凝血因子IX基因突变的亲本来源及其在基因中的分布。
Am J Hum Genet. 1992 Jan;50(1):164-73.

A postulated mechanism for deletions with inversions.

作者信息

Sommer S S, Ketterling R P

出版信息

Am J Hum Genet. 1993 May;52(5):1016-8.

PMID:8488833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682059/
Abstract
摘要