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Clinical spectrum and pleiotropic nature of CDH1 germline mutations
CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour s...
Autores principales: | Figueiredo, Joana, Melo, Soraia, Carneiro, Patrícia, Moreira, Ana Margarida, Fernandes, Maria Sofia, Ribeiro, Ana Sofia, Guilford, Parry, Paredes, Joana, Seruca, Raquel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581119/ https://www.ncbi.nlm.nih.gov/pubmed/30661051 http://dx.doi.org/10.1136/jmedgenet-2018-105807 |
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