尼曼-匹克病C型基因（V2）不在11号染色体上。 - Suppr

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超能文献

The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.

作者信息

Komatsu K, Matsuura S, Tauchi H, Endo S, Kodama S, Smeets D, Weemaes C, Oshimura M

出版信息

Am J Hum Genet. 1996 Apr;58(4):885-8.

PMID:8644753

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914668/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a5/1914668/e5a554a10f26/ajhg00017-0243-a.jpg

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The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.尼曼-匹克病C型基因（V2）不在11号染色体上。

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本文引用的文献

Co-dominance of radioresistant DNA synthesis in a group of AT-like Chinese hamster cell mutants.

Cytogenet Cell Genet. 1993;63(3):176-80. doi: 10.1159/000133528.

Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.通过染色体转移对共济失调毛细血管扩张症细胞进行表型互补的研究。

Am J Hum Genet. 1995 Feb;56(2):438-43.

Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-q23.

Int J Radiat Biol. 1994 Dec;66(6 Suppl):S45-56.

Functional complementation studies with X-ray-sensitive mutants of Chinese hamster cells closely resembling ataxia-telangiectasia cells.对与共济失调毛细血管扩张症细胞极为相似的中国仓鼠细胞X射线敏感突变体进行的功能互补研究。

Int J Radiat Biol. 1994 Dec;66(6 Suppl):S189-95.

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.一个与PI-3激酶产物相似的共济失调毛细血管扩张症基因。

Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600.

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.共济失调毛细血管扩张变异基因1和2与位于11号染色体q23.1上的共济失调毛细血管扩张基因不同。

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A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q.

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A new chromosomal instability disorder: the Nijmegen breakage syndrome.一种新的染色体不稳定疾病：奈梅亨断裂综合征。

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