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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing
BACKGROUND: A cohort of 629 patients with suspected Bannayan–Riley–Ruvalcaba syndrome or Cowden syndrome was tested for mutations in the PTEN gene. METHODS: Dosage analysis of PTEN was carried out using a PTEN-specific multiplex ligation-dependent probe amplification (MLPA) kit, whereas point mutati...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566822/ https://www.ncbi.nlm.nih.gov/pubmed/23299532 http://dx.doi.org/10.1038/bjc.2012.562 |