A novel indel in exon 9 of APC upregulates a ‘skip exon 9' isoform and causes very severe familial adenomatous polyposis

Germline mutation in the adenomatous polyposis coli (APC) gene causes the majority (80%) of familial adenomatous polyposis (FAP), an autosomal dominantly inherited form of colorectal cancer (CRC). Mutation in 5′end of exon 9 of APC usually results in an attenuated form of FAP (aFAP), characterized b...

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Autores principales: Cheah, Peh Yean, Wong, Yu Hui, Koh, Poh Koon, Loi, Carol, Chew, Min Hoe, Tang, Choong Leong
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023219/
https://ncbi.nlm.nih.gov/pubmed/24169521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.245
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