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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...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Figueiredo, Joana, Melo, Soraia, Carneiro, Patrícia, Moreira, Ana Margarida, Fernandes, Maria Sofia, Ribeiro, Ana Sofia, Guilford, Parry, Paredes, Joana, Seruca, Raquel
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6581119/
https://ncbi.nlm.nih.gov/pubmed/30661051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105807
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