Literature DB >> 11288716

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning.

K J Flintoff, E Sheridan, G Turner, C E Chu, G R Taylor.   

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Year:  2001        PMID: 11288716      PMCID: PMC1734800          DOI: 10.1136/jmg.38.2.129

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  3 in total

1.  Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Authors:  O M Sieber; H Lamlum; M D Crabtree; A J Rowan; E Barclay; L Lipton; S Hodgson; H J W Thomas; K Neale; R K S Phillips; S M Farrington; M G Dunlop; H J Mueller; M L Bisgaard; S Bulow; P Fidalgo; C Albuquerque; M I Scarano; W Bodmer; I P M Tomlinson; K Heinimann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-26       Impact factor: 11.205

2.  Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

Authors:  J M Chiang; H W Chen; R P Tang; J S Chen; C R Changchien; P S Hsieh; J Y Wang
Journal:  Fam Cancer       Date:  2009-09-19       Impact factor: 2.375

3.  An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.

Authors:  Qitao Zhan; Liya Wang; Xiangrong Xu; Yan Sun; Lejun Li; Xuchen Qi; Feng Chen; Xiaoming Wei; Michael L Raff; Ping Yu; Fan Jin
Journal:  Front Genet       Date:  2020-03-04       Impact factor: 4.599

  3 in total

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