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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were e...

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Detalles Bibliográficos
Autores principales:	Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, van Overeem Hansen, Thomas, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764253/ https://www.ncbi.nlm.nih.gov/pubmed/29324801 http://dx.doi.org/10.1371/journal.pone.0190050

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