Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Crivelli, Louise, Bubien, Virginie, Jones, Natalie, Chiron, Jennifer, Bonnet, Françoise, Barouk-Simonet, Emmanuelle, Couzigou, Patrice, Sevenet, Nicolas, Caux, Frédéric, Longy, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558175/
https://ncbi.nlm.nih.gov/pubmed/28513612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.81
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