小鼠1号染色体上类脉络膜营养不良症、rab护送蛋白-2基因的遗传定位。 - Suppr

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超能文献

Genetic mapping of the choroideremia-like, rab escort protein-2 gene on mouse chromosome 1.

作者信息

Barbosa M D, Johnson S A, Achey K, Gutierrez M J, Wakeland E K, Kingsmore S F

机构信息

Department of Medicine, University of Florida, Gainesville 32610-0221, USA.

出版信息

Mamm Genome. 1995 Jul;6(7):488-9. doi: 10.1007/BF00360664.

DOI:10.1007/BF00360664

PMID:7579897

Abstract

摘要

相似文献

Genetic mapping of the choroideremia-like, rab escort protein-2 gene on mouse chromosome 1.小鼠1号染色体上类脉络膜营养不良症、rab护送蛋白-2基因的遗传定位。

Mamm Genome. 1995 Jul;6(7):488-9. doi: 10.1007/BF00360664.

A highly polymorphic microsatellite marker located within the choroideremia gene.一个位于脉络膜缺损基因内的高度多态性微卫星标记。

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REP-2, a Rab escort protein encoded by the choroideremia-like gene.REP-2，一种由类脉络膜营养不良基因编码的Rab护送蛋白。

J Biol Chem. 1994 Jan 21;269(3):2111-7.

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.脉络膜缺损中Ram/Rab27的香叶基香叶基化缺陷。

J Biol Chem. 1995 Oct 13;270(41):24420-7. doi: 10.1074/jbc.270.41.24420.

A novel mutation (S558X) causing choroideremia.一种导致脉络膜缺损的新型突变（S558X）。

Hum Mutat. 1996;8(4):395. doi: 10.1002/humu.1380080405.

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.无脉络膜症（CHM）的分子基础：涉及Rab护送蛋白1（REP-1）基因的突变

Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.

New insights into the pathogenesis of choroideremia: a tale of two REPs.视网膜色素变性发病机制的新见解：两个REP的故事

Ophthalmic Genet. 1996 Jun;17(2):43-6. doi: 10.3109/13816819609057869.

Mutation analysis in Canadian families with choroideremia.

Ophthalmic Genet. 1996 Jun;17(2):47-52. doi: 10.3109/13816819609057870.

Cloning and characterization of the human choroideremia gene.

Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041.

Missense mutation in the choroideremia gene.脉络膜营养不良基因的错义突变。

Hum Mol Genet. 1994 Jun;3(6):1017. doi: 10.1093/hmg/3.6.1017.

引用本文的文献

Genetic mapping of the Rab5a and Rab5b genes on mouse Chromosomes 17 and 2, respectively.

Mamm Genome. 1996 Feb;7(2):166-7. doi: 10.1007/s003359900044.

本文引用的文献

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.Rab 香叶基香叶基转移酶 A 组分的 cDNA 克隆及其作为 Rab 护送蛋白作用的证明。

Cell. 1993 Jun 18;73(6):1091-9. doi: 10.1016/0092-8674(93)90639-8.

REP-2, a Rab escort protein encoded by the choroideremia-like gene.REP-2，一种由类脉络膜营养不良基因编码的Rab护送蛋白。

J Biol Chem. 1994 Jan 21;269(3):2111-7.

Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.

Genomics. 1994 Jan 15;19(2):385-7. doi: 10.1006/geno.1994.1077.

Mouse chromosome 1.

Mamm Genome. 1994;5 Spec No:S1-21.

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

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

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.

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