Literature DB >> 17410430

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

Seamus J Murphy1, Brian McIlhatton, W Peter Logan, Kenneth G Porter, Patrick J Morrison.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17410430     DOI： 10.1007/s10620-007-9779-3

Source DB:  PubMed          Journal:  Dig Dis Sci        ISSN： 0163-2116            Impact factor:   3.199


× No keyword cloud information.
  10 in total

1.  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.

Authors:  Daniel C Chung; Mari Mino; Kristen M Shannon
Journal:  N Engl J Med       Date:  2003-10-30       Impact factor: 91.245

2.  Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Authors:  C Soravia; T Berk; L Madlensky; A Mitri; H Cheng; S Gallinger; Z Cohen; B Bapat
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  Lessons from hereditary colorectal cancer.

Authors:  K W Kinzler; B Vogelstein
Journal:  Cell       Date:  1996-10-18       Impact factor: 41.582

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

Authors:  J Young; L A Simms; J Tarish; R Buttenshaw; N Knight; G J Anderson; A Bell; B Leggett
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

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

Authors:  P Rozen; Z Samuel; R Shomrat; C Legum
Journal:  Gut       Date:  1999-12       Impact factor: 23.059

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

Authors:  W S Samowitz; A Thliveris; L N Spirio; R White
Journal:  Cancer Res       Date:  1995-09-01       Impact factor: 12.701

7.  APC mutations occur early during colorectal tumorigenesis.

Authors:  S M Powell; N Zilz; Y Beazer-Barclay; T M Bryan; S R Hamilton; S N Thibodeau; B Vogelstein; K W Kinzler
Journal:  Nature       Date:  1992-09-17       Impact factor: 49.962

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

Authors:  Stefan Aretz; Siegfried Uhlhaas; Yuli Sun; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Gabriela Möslein; Karsten Schulmann; Peter Propping; Waltraut Friedl
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

Review 9.  Attenuated familial adenomatous polyposis (AFAP). A review of the literature.

Authors:  Anne Lyster Knudsen; Marie Luise Bisgaard; Steffen Bülow
Journal:  Fam Cancer       Date:  2003       Impact factor: 2.375

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

Authors:  R B van der Luijt; H F Vasen; C M Tops; C Breukel; R Fodde; P Meera Khan
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.