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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2006
Gaiak:
Electronic Letter
Sarrera elektronikoa: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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