Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
(2010) JAMA : the journal of the American Medical Association — Vol. 304, n° 23, p. 2611-2619 (2010)
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- Abstract
- Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms. Disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein.
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Persu, A., Yao, L., Schiavi, F., Cascon, A., Qin, Y., Inglada-Pérez, L., King, E. E., Toledo, R. A., Ercolino, T., Rapizzi, E., Ricketts, C. J., Mori, L., Giacchè, M., Mendola, A., Taschin, E., Boaretto, F., Loli, P., Iacobone, M., Rossi, G.-P., et al. (2010). Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA : the journal of the American Medical Association, 304(23), 2611-2619. https://doi.org/10.1001/jama.2010.1830 (Original work published 2010)