Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. CpG dinucleotides are mutation hot spots in phenylketonuria
2. Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
3. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy
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5. The effect of ligands of phenylalanine 4-monooxygenase on the cAMP-dependent phosphorylation of the enzyme.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity;Journal of Pediatric Endocrinology and Metabolism;2016-01-01
2. The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro;The Protein Journal;2009-07-24
3. In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function;Human Mutation;1998
4. Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations;The American Journal of Human Genetics;1997-12
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