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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sandell, S, Schuit, R J L, Bunyan, D J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Genetics & Genomics
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

Internet

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

Ejemplares similares