Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing

Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene.  Those deletions were measured using multiplex ligation-dependent probe amplification.  Here, we present and characterize an ~11kb deletion identified by who...

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Detalles Bibliográficos
Autores principales: Kalbfleisch, Ted, Brock, Pamela, Snow, Angela, Neklason, Deborah, Gowans, Gordon, Klein, Jon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505784/
https://www.ncbi.nlm.nih.gov/pubmed/26213617
http://dx.doi.org/10.12688/f1000research.6636.1

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