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Listar por palabra clave "Targeted next-generation sequencing"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por palabra clave "Targeted next-generation sequencing"

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    Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain 
    Sánchez-Monteagudo, Ana; Álvarez-Sauco, María; Sastre, Isabel; Martínez-Torres, Irene; Lupo,Vincenzo; Berenguer, Marina; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2020-05)
    [EN] Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to ...