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


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Georgitsi M., Raitila A., Karhu A., van der Luijt R. B. , Aalfs C. M. , Sane T., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.92, ss.3321-3325, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 92 Konu: 8
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1210/jc.2006-2843
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.3321-3325

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.