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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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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| 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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