位于X连锁慢性肉芽肿病基因座（CYBB）的Nsi I限制性片段长度多态性 - Suppr

Suppr

超能文献

Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB).

作者信息

Battat L, Francke U

机构信息

Department of Human Genetics, Yale University School of Medicine, New Haven, CT.

出版信息

Nucleic Acids Res. 1989 May 11;17(9):3619. doi: 10.1093/nar/17.9.3619.

DOI:10.1093/nar/17.9.3619

PMID:2566976

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC317829/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c11b/317829/1e0a2b4a80d1/nar00126-0289-a.jpg

相似文献

Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB).位于X连锁慢性肉芽肿病基因座（CYBB）的Nsi I限制性片段长度多态性

Nucleic Acids Res. 1989 May 11;17(9):3619. doi: 10.1093/nar/17.9.3619.

An additional NsiI RFLP at the X-linked chronic granulomatous disease (CYBB) locus.位于X连锁慢性肉芽肿病（CYBB）基因座的一个额外的NsiI限制性片段长度多态性。

Nucleic Acids Res. 1990 Dec 11;18(23):7199. doi: 10.1093/nar/18.23.7199.

A second NsiI RFLP at the CYBB locus.CYBB基因座处的第二个NsiI限制性片段长度多态性。

Nucleic Acids Res. 1990 Aug 25;18(16):4966. doi: 10.1093/nar/18.16.4966-a.

Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.细胞色素b558重链基因（CYBB）与LINE-1之间的非同源重组导致X连锁慢性肉芽肿病。

Genomics. 1998 Oct 15;53(2):123-8. doi: 10.1006/geno.1998.5510.

An STR polymorphism at the CYBB locus.CYBB基因座处的STR多态性。

Hum Mol Genet. 1993 Oct;2(10):1755. doi: 10.1093/hmg/2.10.1755.

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

Eur J Pediatr. 1993 Jun;152(6):469-72. doi: 10.1007/BF01955051.

Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis.

Genomics. 1987 Sep;1(1):87-92. doi: 10.1016/0888-7543(87)90109-1.

Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.X连锁慢性肉芽肿病携带者中的体细胞三重镶嵌现象。

Blood. 1998 Jan 1;91(1):252-7.

A 25-kb deletion in the 5' region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease.一名患有X连锁慢性肉芽肿病的患者，其细胞色素b558重链基因（CYBB）5'区域存在一个25千碱基的缺失。

Hum Genet. 1997 Apr;99(4):469-73. doi: 10.1007/pl00008702.

Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters.两个X连锁慢性肉芽肿病家族的分子遗传学研究：突变分析及对患者姐妹携带者状态的确切判定

Eur J Haematol. 1994 Feb;52(2):99-102. doi: 10.1111/j.1600-0609.1994.tb01293.x.

引用本文的文献

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

Eur J Pediatr. 1993 Jun;152(6):469-72. doi: 10.1007/BF01955051.

Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).

Am J Hum Genet. 1990 Sep;47(3):483-92.

Prognosis of chronic granulomatous disease.慢性肉芽肿病的预后

Arch Dis Child. 1990 Sep;65(9):942-5. doi: 10.1136/adc.65.9.942.

An additional NsiI RFLP at the X-linked chronic granulomatous disease (CYBB) locus.位于X连锁慢性肉芽肿病（CYBB）基因座的一个额外的NsiI限制性片段长度多态性。

Nucleic Acids Res. 1990 Dec 11;18(23):7199. doi: 10.1093/nar/18.23.7199.

A second NsiI RFLP at the CYBB locus.CYBB基因座处的第二个NsiI限制性片段长度多态性。

Nucleic Acids Res. 1990 Aug 25;18(16):4966. doi: 10.1093/nar/18.16.4966-a.

Risk calculation in retinitis pigmentosa.视网膜色素变性中的风险计算。

Am J Hum Genet. 1991 Nov;49(5):1094-8.

本文引用的文献

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.随机X染色体失活导致Xp21.1----p21.3区域的镶嵌性缺失，与鸟氨酸转氨甲酰酶缺乏症和慢性肉芽肿病的杂合性相关。

Cytogenet Cell Genet. 1984;38(4):298-307. doi: 10.1159/000132078.

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