LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.

BACKGROUND: LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using conventional methods in several studies. Exonic and whole...

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Bibliografische gegevens
Hoofdauteurs: Volikos, E, Robinson, J, Aittomäki, K, Mecklin, J, Järvinen, H, Westerman, A, de Rooji, F, Vogel, T, Moeslein, G, Launonen, V, Tomlinson, I, Silver, A, Aaltonen, L
Formaat: Journal article
Taal:English
Gepubliceerd in: 2006