Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

BACKGROUND: MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described. CASE PRESENTATION...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Torrezan, Giovana T, da Silva, Felipe CC, Krepischi, Ana CV, Santos, Érika MM, de O Ferreira, Fábio, Rossi, Benedito M, Carraro, Dirce M
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2011
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3203034/
https://ncbi.nlm.nih.gov/pubmed/21962078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-128
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares