Open AccessPresence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil
Author(s) -
Caroline Aquino Moreira-Nunes,
Diego Di Felipe Ávila Alcântara,
Sérgio Figueiredo Lima-Júnior,
Sandro Roberto de Araújo Cavalléro,
Juan A. Rey,
Giovanny R. Pinto,
Paulo Pimentel Assumpção,
Rommel Rodrı́guez Burbano
Publication year - 2015
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v21.i31.9413
Subject(s) - sanger sequencing , familial adenomatous polyposis , proband , adenomatous polyposis coli , genetic counseling , mutation , gene mutation , medicine , genetics , exon , polymerase chain reaction , genetic testing , gene , biology , cancer , colorectal cancer
To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis (FAP) in northern Brazil.