
Biallelic mismatch repair deficiency � A rare and trouble genetic syndrome
Author(s) -
Diana Ramos,
Catarina Brandão,
Cátia Sousa,
Mário DinisRibeiro
Publication year - 2022
Publication title -
revista española de enfermedades digestivas/revista española de enfermedades digestivas
Language(s) - English
Resource type - Journals
eISSN - 2340-4167
pISSN - 1130-0108
DOI - 10.17235/reed.2022.8928/2022
Subject(s) - pms2 , msh6 , msh2 , lynch syndrome , medicine , microsatellite instability , mlh1 , dna mismatch repair , germline mutation , pathology , mutation , cancer research , colorectal cancer , cancer , allele , gene , genetics , biology , microsatellite