In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction & stability and is associated with gigantism.
Authors
Salvatori, RRadian, S
Diekmann, Y
Iacovazzo, D
David, A
Grabovska, P
Grassi, G
Bussell, A
Stals, K
Weber, A
Quinton, R
Crowne, E
Corazzini, V
Metherell, L
Kearney, T
Du Plessis, D
Sinha, A
Baborie, A
Locoq, A
Chanson, P
Ansorge, O
Ellard, S
Trainer, Peter J
Balding, D
Thomas, M
Korbonits, M
Affiliation
Endocrinology, Johns Hopkins University, Baltimore, 21287, United StatesIssue Date
2017-06-20
Metadata
Show full item recordAbstract
Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events.Citation
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction & stability and is associated with gigantism. 2017 Eur J EndocrinolJournal
European Journal of EndocrinologyDOI
10.1530/EJE-17-0293PubMed ID
28634279Type
ArticleLanguage
enISSN
1479-683Xae974a485f413a2113503eed53cd6c53
10.1530/EJE-17-0293
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