Article

The R304X mutation of the Aryl hydrocarbon receptor Interacting Protein gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?

2010-01-01

Abstract excerpt

BACKGROUND: Mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene have been described in about 15% of kindreds with familial isolated pituitary adenomas and in a minority of early onset sporadic pituitary adenomas (PA). Among the AIP mutations reported so far, the R304X (AIPR304X) represents, together with the "Finnish mutation" Q14X, the most common one. METHODS: Three AIPR304X Italian familie...

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Literature Corpus work: ff6e7d5d-6d74-507b-92c2-b2e26a254b16
DOI: 10.3275/6956

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