Analysis of choroideraemia gene.

Suppr

超能文献

作者信息

Fodor E, Lee R T, O'Donnell J J

出版信息

Nature. 1991 Jun 20;351(6328):614. doi: 10.1038/351614b0.

DOI:10.1038/351614b0

PMID:1904992

Abstract

摘要

相似文献

Analysis of choroideraemia gene.

Nature. 1991 Jun 20;351(6328):614. doi: 10.1038/351614b0.

MRS6--yeast homologue of the choroideraemia gene.MRS6——脉络膜血症基因的酵母同源物。

Nat Genet. 1993 Mar;3(3):193-4. doi: 10.1038/ng0393-193.

Cloning of a gene that is rearranged in patients with choroideraemia.

Nature. 1990 Oct 18;347(6294):674-7. doi: 10.1038/347674a0.

Identification of mutations in Danish choroideremia families.

Hum Mutat. 1993;2(1):43-7. doi: 10.1002/humu.1380020108.

The sequence of a 13.5 kb DNA segment from the left arm of yeast chromosome XIV reveals MER1; RAP1; a new putative member of the DNA replication complex and a new putative serine/threonine phosphatase gene.来自酵母十四号染色体左臂的一段13.5 kb DNA片段的序列揭示了MER1；RAP1；DNA复制复合体的一个新的假定成员和一个新的假定丝氨酸/苏氨酸磷酸酶基因。

Yeast. 1995 Jan;11(1):85-91. doi: 10.1002/yea.320110111.

Identification of a human guanine nucleotide-releasing factor (H-GRF55) specific for Ras proteins.一种对Ras蛋白具有特异性的人类鸟嘌呤核苷酸释放因子（H-GRF55）的鉴定。

Oncogene. 1993 Jun;8(6):1477-85.

An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.

Hum Mol Genet. 1992 May;1(2):71-5. doi: 10.1093/hmg/1.2.71.

A gene from Saccharomyces cerevisiae which codes for a protein with significant homology to the bacterial 3-phosphoserine aminotransferase.来自酿酒酵母的一个基因，该基因编码一种与细菌3-磷酸丝氨酸转氨酶具有显著同源性的蛋白质。

Yeast. 1994 Mar;10(3):385-9. doi: 10.1002/yea.320100311.

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

Am J Hum Genet. 1992 Jun;50(6):1195-202.

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.一种新型核糖体S6激酶（RSK4；RPS6KA6）在患有复杂X连锁智力障碍的患者中通常缺失。

Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004.

引用本文的文献

Molecular basis for Rab prenylation.Rab蛋白异戊二烯化的分子基础。

J Cell Biol. 2000 Jul 10;150(1):89-103. doi: 10.1083/jcb.150.1.89.

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.遗传性眼病基因图谱的最新进展：视网膜、脉络膜和玻璃体的原发性遗传性疾病

J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.

The yeast protein Mrs6p, a homologue of the rabGDI and human choroideraemia proteins, affects cytoplasmic and mitochondrial functions.酵母蛋白Mrs6p是rabGDI和人类脉络膜血质蛋白的同源物，它影响细胞质和线粒体功能。

Curr Genet. 1994 Oct;26(4):308-14. doi: 10.1007/BF00310494.

Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI).

Mamm Genome. 1994 Oct;5(10):633-9. doi: 10.1007/BF00411459.

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

Am J Hum Genet. 1992 Jun;50(6):1195-202.

Isolation of a candidate gene for choroideremia.

Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9. doi: 10.1073/pnas.89.6.2135.

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