Article
Characteristics of the Danish families with multiple endocrine neoplasia type 1.
Molecular and cellular endocrinology - 25 Apr 2006
Jäger Anne Charlotte, Friis-Hansen Lennart, Hansen Thomas V O, Eskildsen Peter C, Sølling Karsten, Knigge Ulrich, Hansen Carsten P, Andersen Per H, Brixen Kim, Feldt-Rasmussen Ulla, Kroustrup Jens Peter, Mollerup Charlotte L, Rehfeld Jens F, Blichert-Toft Mogens, Nielsen Finn C
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven...
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