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...

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Bibliografski detalji
Glavni autori: Torrezan, Giovana T, da Silva, Felipe CC, Krepischi, Ana CV, Santos, Érika MM, de O Ferreira, Fábio, Rossi, Benedito M, Carraro, Dirce M
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2011
Teme:
Case Report
Online pristup: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
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