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Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and papillary type 2 renal cell cancer. Germline mutation of the fumarate hydratase (FH) gene is known to be associated with HLRCC. CASE PRESE...

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Detalles Bibliográficos
Autores principales:	Kuwada, Masaomi, Chihara, Yoshitomo, Lou, Yi, Torimoto, Kazumasa, Kagebayashi, Yoriaki, Tamura, Kenji, Shuin, Taro, Fujimoto, Kiyohide, Kuniyasu, Hiroki, Samma, Shoji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978052/ https://www.ncbi.nlm.nih.gov/pubmed/24684806 http://dx.doi.org/10.1186/1756-0500-7-203

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