Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20366/fullpdf
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3. Atypical (mild) forms of dihydropteridine reductase deficiency-neurochemical evaluation and mutation detection;Blau;Pediatr Res,1992
4. A missense mutation in a patient with guanosine triphosphate cyclohydrolase deficiency missed in the newborn screening program;Blau;J Pediatr,1995
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