Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:J Med Genet
Main Authors: Disciglio, Vittoria, Fasano, Candida, Cariola, Filomena, Forte, Giovanna, Grossi, Valentina, Sanese, Paola, Lepore Signorile, Martina, Resta, Nicoletta, Lotesoriere, Claudio, Stella, Alessandro, Lolli, Ivan, Simone, Cristiano
Formáid: Artigo
Teanga:Inglês
Foilsithe: BMJ Publishing Group 2020
Ábhair:
Genotype-Phenotype Correlations
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7231465/
https://ncbi.nlm.nih.gov/pubmed/31591141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106299
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla