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Identification of a KEAP1 Germline Mutation in a Family with Multinodular Goitre

BACKGROUND: The familial clustering of multinodular goitres (MNGs) with a dominant mode of inheritance has been repeatedly reported. Linkage studies have revealed several genetic loci responsible for familial MNG; however, most of the causative variants remain unknown. METHODS AND RESULTS: Through l...

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Detalles Bibliográficos
Autores principales: Teshiba, Risa, Tajiri, Tatsuro, Sumitomo, Kenzo, Masumoto, Kouji, Taguchi, Tomoaki, Yamamoto, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665763/
https://www.ncbi.nlm.nih.gov/pubmed/23724128
http://dx.doi.org/10.1371/journal.pone.0065141