Browsing by Author "0068adb8-3aab-4a42-836c-b779e77ac726"

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    • A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in ... 
      Rojas, Cecilia V.; Santa María, Lorena; Santos, José Luis; Cortés, Fanny; Alliende, María Angélica (2002)
      Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
    • FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile 
      Santa María, Lorena; Pugin, A.; Alliende, M. A.; Aliaga, S.; Curotto, B.; Aravena, T.; Tang, H. T.; Mendoza-Morales, G.; Hagerman, R.; Tassone, F. (Blackwell Publishing Ltd, 2014)
      © 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, ...