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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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| Publicado no: | J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4316932/ https://ncbi.nlm.nih.gov/pubmed/25527629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102803 |
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