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Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma

Sorrell AD, Lee S, Stolle C, Ellenhorn J, Grix A, Kaelin Jr WG, Weitzel JN. Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma. This report describes clinical characteristics in families with a Type 2A phenotype and...

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Detalles Bibliográficos
Autores principales: Sorrell, AD, Lee, S, Stolle, C, Ellenhorn, J, Grix, A, Kaelin, WG, Weitzel, JN
Formato: Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958253/
https://www.ncbi.nlm.nih.gov/pubmed/20560986
http://dx.doi.org/10.1111/j.1399-0004.2010.01464.x