Nalaganje...

A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.

Familial isolated pituitary adenomas (FIPA) constitute 2–3% of pituitary tumours. FIPA is a non-syndromic entity that occurs in two or more family members. AIP is the most commonly mutated gene. We report here a novel germline mutation of the AIP gene in a family with FIPA. We present two patients,...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Hormones (Athens)
Main Authors: Cansu, Güven Barış, Taşkıran, Bengür, Trivellin, Giampaolo, Faucz, Fabio R., Stratakis, Constantine A.
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309374/
https://ncbi.nlm.nih.gov/pubmed/27838609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14310/horm.2002.1686
Oznake: Označite
Brez oznak, prvi označite!