Article
Large genomic deletions in AIP in pituitary adenoma predisposition.
The Journal of clinical endocrinology and metabolism - 1 Oct 2008
Georgitsi Marianthi, Heliövaara Elina, Paschke Ralf, Kumar Ajith V K, Tischkowitz Marc, Vierimaa Outi, Salmela Pasi, Sane Timo, De Menis Ernesto, Cannavò Salvatore, Gündogdu Sadi, Lucassen Anneke, Izatt Louise, Aylwin Simon, Bano Gul, Hodgson Shirley, Koch Christian A, Karhu Auli, Aaltonen Lauri A
Abstract excerpt
CONTEXT: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings. OBJECTIVE: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP. DESIGN: Here, we...
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