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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Torrezan, Giovana T, da Silva, Felipe CC, Krepischi, Ana CV, Santos, Érika MM, de O Ferreira, Fábio, Rossi, Benedito M, Carraro, Dirce M
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2011
Θέματα:
Case Report
Διαθέσιμο Online: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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