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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2006
Pynciau:
Electronic Letter
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg