Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence.

Suppr

超能文献

作者信息

Ketterling R P, Sommer S S

机构信息

Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905.

出版信息

Hum Mol Genet. 1994 Jan;3(1):191-2. doi: 10.1093/hmg/3.1.191.

DOI:10.1093/hmg/3.1.191

PMID:8162024

Abstract

摘要

相似文献

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.

Characterization of factor IX defects in hemophilia B patients.

Methods Enzymol. 1993;222:143-69. doi: 10.1016/0076-6879(93)22011-4.

A deletion located in the 3' non translated part of the factor IX gene responsible for mild haemophilia B.

Thromb Haemost. 1993 Aug 2;70(2):370-1.

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.

Am J Hum Genet. 1990 Dec;47(6):1020-2.

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

Hum Mol Genet. 1993 Aug;2(8):1309-10. doi: 10.1093/hmg/2.8.1309.

Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B.

Thromb Res. 1992 Jan 15;65(2):289-95. doi: 10.1016/0049-3848(92)90249-a.

An intragenic deletion of the factor IX gene in a family with hemophilia B.

J Clin Invest. 1985 Dec;76(6):2161-4. doi: 10.1172/JCI112222.

Deletions with inversions: report of a mutation and review of the literature.

Hum Mutat. 1993;2(1):53-7. doi: 10.1002/humu.1380020110.

Twenty-five novel mutations of the factor IX gene in haemophilia B.

Hum Mutat. 1995;6(4):346-8. doi: 10.1002/humu.1380060410.

Identification of a factor IX point mutation using SSCP analysis and direct sequencing.

Nucleic Acids Res. 1990 Sep 25;18(18):5575. doi: 10.1093/nar/18.18.5575.

引用本文的文献

Mechanisms of DNA expansion.

Chromosoma. 1995 Oct;104(1):2-13. doi: 10.1007/BF00352220.

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