[EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...
Casaña, Pilar; Cabrera, Noelia; Cid, Ana Rosa; Haya, Saturnino; Beneyto, Magdalena; Espinós-Armero, Carmen Ángeles; Cortina, Vicente; Dasí, María Angeles; Aznar, José Antonio(Ferrata Storti Foundation, 2008-07)
[EN]
Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost. Our aim was to establish ...