CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Disease-causing germline mutations in CDH1 cause Hereditary Diffuse Gastric Cancer (HDGC). For patients who meet the HDGC screening criteria, the identification and classification of the sequence variants found in CDH1 are critical for risk management of patients. In this report, we describe a germl...

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Detalles Bibliográficos
Autores principales: Yelskaya, Zarina, Bacares, Ruben, Salo-Mullen, Erin, Somar, Joshua, Lehrich, Deborah A., Fasaye, Grace-Ann, Coit, Daniel G., Tang, Laura H., Stadler, Zsofia K., Zhang, Liying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120775/
https://www.ncbi.nlm.nih.gov/pubmed/27880784
http://dx.doi.org/10.1371/journal.pone.0165654

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120775/
https://www.ncbi.nlm.nih.gov/pubmed/27880784
http://dx.doi.org/10.1371/journal.pone.0165654

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