Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

Bisello, G; Bertoldi, M

Bertoldi, M (通讯作者),Univ Verona, Dept Neurosci Biomed & Movement Sci, Sect Biol Chem, Str Grazie 8, I-37134 Verona, Italy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022; 23 (19):

Abstract

Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridox......

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