Browsing by Subject "X- inactivation"

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    • Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study 

      Guillén Navarro, Encarnación; Domingo Jiménez, María Rosario; Alcalde Martín, Carlos; Cancho Candela, Ramón; Couce Pico, María de la Luz; Galán Gómez, Enrique; Alonso Luengo, Olga (BioMed Central, 2013)
      Background: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS ...




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