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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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Crivelli, Louise, Bubien, Virginie, Jones, Natalie, Chiron, Jennifer, Bonnet, Françoise, Barouk-Simonet, Emmanuelle, Couzigou, Patrice, Sevenet, Nicolas, Caux, Frédéric, Longy, Michel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2017
Konular:
Short Report
Online Erişim: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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