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Article
Ipogonadismo ipogonadotropo familiare isolato e mutazione del gene GNRH1
È stato valutato se mutazioni del gene che codifica il GnRH1 possano essere responsabili di ipogonadismo ipogonadotropo idiopatico (IHH) nell’uomo. È stata identificata una mutazione omozigote di tipo frameshi...
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Article
The tumor suppressor activity induced by adenovirus-mediated BRCA1 overexpression is not restricted to breast cancers
The BRCA1 (breast cancer 1) breast cancer susceptibility gene is recognized as responsible for most familial breast and ovarian cancers and is suggested to be a tissue-specific tumor suppressor gene. In this repo...
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Article
Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia
The well-replicated platelet hyperserotonemia of autism has stimulated interest in serotonin (5-HT) in autism. We have examined the effects of the serotonin transporter gene (5-HTT, locus SLC6A4) promoter poly...