Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

doi:10.1016/j.biopsych.2007.08.015

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Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

Biological psychiatry - 15 May 2008

López de Munain Adolfo, Alzualde Ainhoa, Gorostidi Ana, Otaegui David, Ruiz-Martínez Javier, Indakoetxea Begoña, Ferrer Isidro, Pérez-Tur Jordi, Sáenz Amets, Bergareche Alberto, Barandiarán Miriam, Poza Juan José, Zabalza Ramón, Ruiz Irune, Urtasun Miguel, Fernández-Manchola Iñaki, Olasagasti Bixen, Espinal Juan Bautista, Olaskoaga Javier, Ruibal Marta, Moreno Fermin, Carrera Nieves, Martí Massó José Félix

Abstract excerpt

BACKGROUND: There is an increasing interest in the clinico-pathological correlation of mutations in progranulin (PGRN) and frontotemporal lobar degeneration (FTLD) complex diseases. We aim to study the PGRN expression variability in patients with different clinical features for a better understanding of its roles in FTLD disease. METHODS: We sequenced the PGRN gene in 72 patients suffering from FTLD (25 familial...

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PMID: 17950702
DOI: 10.1016/j.biopsych.2007.08.015

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