Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

BACKGROUND: Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and autism, but any genotype-phenotype relationships are poorly understood. METHODS: We have studied the functional consequences of seven...

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Detalles Bibliográficos
Autores principales: Spinelli, Laura, Black, Fiona M, Berg, Jonathan N, Eickholt, Britta J, Leslie, Nicholas R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316932/
https://www.ncbi.nlm.nih.gov/pubmed/25527629
http://dx.doi.org/10.1136/jmedgenet-2014-102803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316932/
https://www.ncbi.nlm.nih.gov/pubmed/25527629
http://dx.doi.org/10.1136/jmedgenet-2014-102803

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