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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Fernández Ramos, Joaquín Alejandro; Torre‑Aguilar, M. J. de la; Quintáns, Beatriz; Pérez Navero, Juan Luis; Beyer, Katrin; López-Laso, Eduardo (Elsevier, 2021)Introduction In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed ...