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Identification and characterization of the novel point muta..:

Carreño-Gago, Lidia ; Gamez, Josep ; Cámara, Yolanda...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1863 (2017)  1 - p. 182-187 , 2017
Link: https://doi.org/10.1016/j.bbadis.2016.09.002