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1
APC gene: database of germline and somatic mutations in human tumors and cell lines.APC基因:人类肿瘤和细胞系中种系及体细胞突变数据库。
Nucleic Acids Res. 1996 Jan 1;24(1):121-4. doi: 10.1093/nar/24.1.121.
2
APC gene: database of germline and somatic mutations in human tumors and cell lines.APC基因:人类肿瘤和细胞系中种系及体细胞突变数据库。
Nucleic Acids Res. 1998 Jan 1;26(1):269-70. doi: 10.1093/nar/26.1.269.
3
Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.上消化道家族性腺瘤性息肉病的突变簇区域、胚系突变与体细胞突变之间的关联以及基因型-表型相关性
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4
Reduction in alkaline sphingomyelinase in colorectal tumorigenesis is not related to the APC gene mutation.结直肠癌发生过程中碱性鞘磷脂酶的减少与APC基因突变无关。
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5
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Hum Mutat. 2001 Oct;18(4):355. doi: 10.1002/humu.1198.
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Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.对受家族性腺瘤性息肉病(FAP)或多发性腺瘤影响的捷克家庭中的APC和MYH基因进行分子分析:13种新突变。
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Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma.对患有明显散发型硬纤维瘤但有结直肠癌家族史的患者进行APC基因种系突变的基因检测。
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Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.APC和MUTYH基因的种系突变是大多数轻度家族性腺瘤性息肉病家族的病因。
Clin Genet. 2007 May;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x.

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Novel read through agent: ZKN-0013 demonstrates efficacy in APC model of familial adenomatous polyposis.新型通读试剂:ZKN-0013 在家族性腺瘤性息肉病的 APC 模型中显示出疗效。
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本文引用的文献

1
Association between wild type and mutant APC gene products.野生型与突变型APC基因产物之间的关联。
Cancer Res. 1993 Jun 15;53(12):2728-31.
2
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.在家族性腺瘤性息肉病患者中,眼底病变局限于腺瘤性息肉病 coli 基因特定亚组的 APC 突变。
Cell. 1993 Dec 3;75(5):959-68. doi: 10.1016/0092-8674(93)90539-3.
3
Alleles of the APC gene: an attenuated form of familial polyposis.APC基因的等位基因:家族性腺瘤性息肉病的一种弱化形式。
Cell. 1993 Dec 3;75(5):951-7. doi: 10.1016/0092-8674(93)90538-2.
4
Mutations of the APC (adenomatous polyposis coli) gene.APC(腺瘤性结肠息肉病)基因的突变。
Hum Mutat. 1993;2(6):425-34. doi: 10.1002/humu.1380020602.
5
The role of the adenomatous polyposis coli (APC) gene in human cancers.腺瘤性结肠息肉病(APC)基因在人类癌症中的作用。
Adv Cancer Res. 1993;62:65-87. doi: 10.1016/s0065-230x(08)60315-2.
6
Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.对最具代表性的肿瘤来源的p53突变体进行分析后发现,蛋白质构象的变化与反式激活的丧失或细胞增殖的抑制并无关联。
EMBO J. 1994 Aug 1;13(15):3496-504. doi: 10.1002/j.1460-2075.1994.tb06656.x.
7
Mutations in the APC gene and their implications for protein structure and function.
Curr Opin Genet Dev. 1995 Feb;5(1):66-71. doi: 10.1016/s0959-437x(95)90055-1.
8
Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients.家族性腺瘤性息肉病患者中APC基因种系突变位置与结直肠息肉数量之间的相关性。
Cancer Res. 1992 Jul 15;52(14):4055-7.

APC基因:人类肿瘤和细胞系中种系及体细胞突变数据库。

APC gene: database of germline and somatic mutations in human tumors and cell lines.

作者信息

Béroud C, Soussi T

机构信息

Hôpital Necker Enfants Malades, U383 INSERM, Paris, France.

出版信息

Nucleic Acids Res. 1996 Jan 1;24(1):121-4. doi: 10.1093/nar/24.1.121.

DOI:10.1093/nar/24.1.121
PMID:8594558
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC145597/
Abstract

A database is described in which over 700 mutations in the human APC gene of tumors (colon cancer predominantly) are compiled from the literature. It includes both molecular informations about the mutations and also clinical data about the patients. A software have been designed in order to analyse all these informations in the database.

摘要

描述了一个数据库,其中从文献中汇编了肿瘤(主要是结肠癌)人类APC基因的700多个突变。它既包括有关这些突变的分子信息,也包括有关患者的临床数据。已经设计了一个软件来分析数据库中的所有这些信息。