Identifikatu
Taldeak
Ikertzaileak
Emaitzak
Elena
Ramos Trujillo
Investigadora
Hospital Universitario Central de Asturias
Oviedo, España
Hemen zaude
Lankidetzak
Hospital Universitario Central de Asturias
Hospital Universitario Central de Asturias -ko ikertzaileekin lankidetzan egindako argitalpenak (1)
2007
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease
Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261
Kontaktua
Lege-oharra
Laguntza
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