Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

Germline mutations in the tumor‐suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, and autism. Evidence‐based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene‐informed gene...

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Detalles Bibliográficos
Autores principales: Chen, Hannah Jinlian, Romigh, Todd, Sesock, Kaitlin, Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599331/
https://www.ncbi.nlm.nih.gov/pubmed/28677221
http://dx.doi.org/10.1002/humu.23288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599331/
https://www.ncbi.nlm.nih.gov/pubmed/28677221
http://dx.doi.org/10.1002/humu.23288

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