Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Lillevali, H; Pajusalu, S; Wojcik, MH; Goodrich, J; Collins, RL; Murumets, U; Tammur, P; Blau, N; Lillevali, K; Ounap, K

Ounap, K (corresponding author), Tartu Univ Hosp, Dept Clin Genet, United Labs, 2 L Puusepa St, EE-50406 Tartu, Estonia.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2020; 8 (4):

Abstract

Background Dihydropteridine reductase (DHPR) is one of the key enzymes for maintaining in the organism the supply of tetrahydrobiopterin (BH4), an ess......

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