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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Detalhes bibliográficos
Main Authors: Volikos, E, Robinson, J, Aittomäki, K, Mecklin, J‐P, Järvinen, H, Westerman, A M, de Rooij, F W M, Vogel, T, Moeslein, G, Launonen, V, Tomlinson, I P M, Silver, A R J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564523/
https://ncbi.nlm.nih.gov/pubmed/16648371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.039875
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