一个患轻度家族性腺瘤性息肉病的家族中，APC基因第4外显子存在剪接位点突变。 - Suppr

Suppr

超能文献

A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.

作者信息

Murphy Seamus J, McIlhatton Brian, Logan W Peter, Porter Kenneth G, Morrison Patrick J

机构信息

Department of Gastroenterology, Belfast City Hospital, 51 Lisburn Road, Belfast, BT9 7AB, UK.

出版信息

Dig Dis Sci. 2007 Oct;52(10):2784-7. doi: 10.1007/s10620-007-9779-3. Epub 2007 Apr 5.

DOI:10.1007/s10620-007-9779-3

PMID:17410430

Abstract

摘要

相似文献

A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.

Dig Dis Sci. 2007 Oct;52(10):2784-7. doi: 10.1007/s10620-007-9779-3. Epub 2007 Apr 5.

A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.

Fam Cancer. 2010 Sep;9(3):395-400. doi: 10.1007/s10689-009-9317-x.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

BMC Cancer. 2005 Apr 15;5:40. doi: 10.1186/1471-2407-5-40.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Hum Mutat. 2004 Nov;24(5):370-80. doi: 10.1002/humu.20087.

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.

Hum Mutat. 2012 May;33(5):895-8. doi: 10.1002/humu.22043. Epub 2012 Mar 22.

Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation.

Fam Cancer. 2001;1(1):3-7. doi: 10.1023/a:1011570523343.

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.

Hum Genet. 1999 Nov;105(5):388-98. doi: 10.1007/s004390051121.

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

Dis Colon Rectum. 2007 Dec;50(12):2142-8. doi: 10.1007/s10350-007-9044-z.

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

Hum Mutat. 1994;3(1):12-8. doi: 10.1002/humu.1380030103.

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia.

Pediatr Dev Pathol. 2002 Jan-Feb;5(1):69-75. doi: 10.1007/s10024-001-0121-3.

本文引用的文献

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Hum Mutat. 2004 Nov;24(5):370-80. doi: 10.1002/humu.20087.

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-2003. A 45-year-old woman with a family history of colonic polyps and cancer.

N Engl J Med. 2003 Oct 30;349(18):1750-60. doi: 10.1056/NEJMcpc030023.

Attenuated familial adenomatous polyposis (AFAP). A review of the literature.

Fam Cancer. 2003;2(1):43-55. doi: 10.1023/a:1023286520725.

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

Gut. 1999 Dec;45(6):829-33. doi: 10.1136/gut.45.6.829.

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.

Hum Mutat. 1998;11(6):450-5. doi: 10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P.

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Am J Hum Genet. 1998 Jun;62(6):1290-301. doi: 10.1086/301883.

Lessons from hereditary colorectal cancer.

Cell. 1996 Oct 18;87(2):159-70. doi: 10.1016/s0092-8674(00)81333-1.

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

Hum Genet. 1995 Dec;96(6):705-10. doi: 10.1007/BF00210303.

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC.

Cancer Res. 1995 Sep 1;55(17):3732-4.

APC mutations occur early during colorectal tumorigenesis.

Nature. 1992 Sep 17;359(6392):235-7. doi: 10.1038/359235a0.

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