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ea0021p273 | Pituitary | SFEBES2009

The R304X mutation of the Aryl hydrocarbon receptor interacting protein (AIP) gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?

Trivellin Giampaolo , Occhi Gianluca , Jaffrain-Rea Marie-Lise , Albiger Nora , Ceccato Filippo , De Menis Ernesto , Angelini Mariolina , Ferasin Sergio , Mantero Franco , Beckers Albert , Scaroni Carla

Background: Familial isolated pituitary adenomas (FIPA) is a rare inherited disorder accounting for about 2% of pituitary adenomas. Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of FIPA families and rarely in early onset sporadic pituitary adenomas. Among the AIP mutations reported so far, the R304X represents, after the Finnish founder mutation Q14X, the second most common one.Me...

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Endocrine Abstracts

The R304X mutation of the Aryl hydrocarbon receptor interacting protein (AIP) gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?

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