Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

por Balasubramaniam, Gowrie S., Arenas-Hernandez, Monica, Escuredo, Emilia, Fairbanks, Lynette, Marinaki, Tony, Mapplebeck, Sarah, Sheaff, Michael, Almond, Michael K.
Publicado 2016