A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia

Paola Bianchi, Manuela Zappa, Elena Bredi, Cristina Vercellati, Giovanni Pelissero, Fiorenza Barraco, Alberto Zanella

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Medicine & Life Sciences