Monogenic traits are not simple: lessons from phenylketonuria (Q33677027)

28 July 2017

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title

Monogenic traits are not simple: lessons from phenylketonuria (English)

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28 July 2017

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1

Scriver CR

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28 July 2017

Waters PJ

2

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28 July 2017

language of work or name

English

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publication date

1 July 1999

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28 July 2017

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28 July 2017

volume

15

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28 July 2017

issue

7

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28 July 2017

page(s)

267-272

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Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease

28 July 2017

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The rapid detection of unknown mutations in nucleic acids.

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Phenylketonuria--genotypes and phenotypes

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7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

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7 January 2021

Phenotypic diversity, allelic series and modifier genes

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7 January 2021

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

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7 January 2021

Complexity in a monogenic disease

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7 January 2021

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

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Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity

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7 January 2021

Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität

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PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

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7 January 2021

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

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7 January 2021

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

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7 January 2021

Is there a paradigm shift in genetics? Lessons from the study of human diseases

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7 January 2021

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings

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7 January 2021

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

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7 January 2021

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

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7 January 2021

Comparison of genotype and intellectual phenotype in untreated PKU patients

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7 January 2021

In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.

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Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria

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Normal plasma free amino acid values in adults: the influence of some common physiological variables

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Quantification of the importance of individual steps in the control of aromatic amino acid metabolism

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7 January 2021

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

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7 January 2021

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased

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7 January 2021

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria

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7 January 2021

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

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7 January 2021

Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase

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7 January 2021

A novel genetic system to detect protein-protein interactions

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7 January 2021

Molecular chaperones in protein folding: the art of avoiding sticky situations

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7 January 2021

Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system

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7 January 2021

Protein processing: a role in the pathophysiology of genetic disease.

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7 January 2021

Folding of Secretory and Membrane Proteins

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7 January 2021

Protein folding in the cytosol: chaperonin-dependent and -independent mechanisms

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7 January 2021

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

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7 January 2021

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene

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7 January 2021

A new dimension for the human genome project: towards comprehensive expression maps

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7 January 2021

Hershey heaven and Caenorhabditis elegans

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7 January 2021

Phenylketonuria; a problem in eugenics

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7 January 2021

Phenylketonuria - a problem in eugenics

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7 January 2021

Structural basis of autoregulation of phenylalanine hydroxylase

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7 January 2021

10.1016/S0168-9525(99)01761-8

Identifiers

DOI

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28 July 2017

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