Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which inclu...

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Hauptverfasser: Longy, M, Coulon, V, Duboué, B, David, A, Larrègue, M, Eng, C, Amati, P, Kraimps, J L, Bottani, A, Lacombe, D, Bonneau, D
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1998
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051478/
https://ncbi.nlm.nih.gov/pubmed/9832032
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