Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Purpose: Lynch syndrome accounts for 2-4% of all colorectal cancer, and is mainly caused by germline mutations in the DNA mismatch repair genes. Our aim was to characterize the genetic mutation responsible for Lynch syndrome in an extensive Colombian family and to study its prevalence in Antioquia....

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Autori principali: Alonso-Espinaco, V, Giráldez, MD, Trujillo, C, Van Der Klift, H, Muñoz, J, Balaguer, F, Ocaña, T, Madrigal, I, Jones, A, Echeverry, M, Velez, A, Tomlinson, I, Milà, M, Wijnen, J, Carvajal-Carmona, L, Castells, A, Castellví-Bel, S
Natura: Journal article
Lingua:English
Pubblicazione: 2011