Carmen Ángeles

Jan 8, 2024 | riunet.upv.es | Carmen Ángeles |Aida Ormazabal |Rafael Artuch |María Antonia Vilaseca

Espinós-Armero, CÁ.; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, F.... (2009). Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. Journal of Medical Genetics. 46(6):407-411. https://doi.org/10.1136/jmg.2008.060632Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201633Ficheros en el ítemNombre:Espinos-ArmeroPin ...

Dec 31, 2023 | riunet.upv.es | Maria Pilar |Carmen Ángeles

[EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant ...[+][EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant are less consistent.

Dec 29, 2023 | riunet.upv.es | Maria Jose |María Jesús |Juan Francisco |Carmen Ángeles

[EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...[+][EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyneuropathies.