Genetics of Phenylketonuria: Then and Now
Author:
Affiliation:
1. Dietmar-Hopp-Metabolic Center; University Children's Hospital; Heidelberg Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference98 articles.
1. First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer;Arturo;Proc Natl Acad Sci U S A,2016
2. A new molecular defect in phenylketonuria;K;Lancet,1974
3. Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers;Belanger-Quintana;Mol Genet Metab,2012
4. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency;Benit;Mol Genet Metab,1999
5. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene;Bercovich;J Hum Genet,2008
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