This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation
Pyridoxine - 5'-phosphate oxidase (Pnpo) deficiency : clinical and biochemical alterations associated with the C.347g>A(P:Arg116gln) mutation" / Salvo ML; Mastrangelo M; Nogues I; Tolve M; Paiardini A; Carducci C; Mei D; Montomoli M; Tramonti A; Guerrini R; Contestabile R; Leuzzi V.. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7206. - ELETTRONICO. - (2018), pp. 0-0. [10.1016/j.ymgme.2017.08.003]
Pyridoxine - 5'-phosphate oxidase (Pnpo) deficiency : clinical and biochemical alterations associated with the C.347g>A(P:Arg116gln) mutation"
Guerrini R;
2018
Abstract
This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation
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