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Article

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Human genetics - 1 Dec 2000

Romstad A, Kalkanoğlu H S, Coşkun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Güttler F

Abstract excerpt

Dihydropteridine reductase (DHPR) catalyses the conversion of quinonoid dihydrobiopterin (qBH2) to tetrahydrobiopterin (BH4), which serves as the obligatory cofactor for the aromatic amino acid hydroxylases. DHPR deficiency, caused by mutations in the QDPR gene, results in hyperphenylalaninemia and deficiency of various neurotransmitters in the central nervous system, with severe neurological symptoms as a...

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Source

Identifiers

PMID: 11153907
DOI: 10.1007/s004390000407

Genes

QDPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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