Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia

Tarih
2007
Yazar
Makinen, Markus J.
Georgitsi, Marianthi
Raitila, Anniina
Karhu, Auli
van der Luijt, Rob B.
Aalfs, Cora M.
Sane, Timo
Vierimaa, Outi
Tuppurainen, Karoliina
Paschke, Ralph
Gimm, Oliver
Koch, Christian A.
Gundogdu, Sadi
Lucassen, Anneke
Tischkowitz, Marc
Izatt, Louise
Aylwin, Simon
Bano, Gul
Hodgson, Shirley
De Menis, Ernesto
Launonen, Virpi
Vahteristo, Pia
Aaltonen, Lauri A.
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Özet
Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.
Bağlantı
http://hdl.handle.net/20.500.12627/165290
https://doi.org/10.1210/jc.2006-2843
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