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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...
Kaydedildi:
| Yayımlandı: | Eur J Hum Genet |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2017
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| Konular: | |
| 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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