Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

No abstract is available for this paper.

• Publication year

  1986

• Venue

  Nature

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/322799A0PMID 3018584
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

  1986cited by this paper
• Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

  1985cited by this paper
• Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

  1985cited by this paper
• Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria.

  1985cited by this paper
• Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

  1985cited by this paper
• Prenatal diagnosis of classic phenylketonuria by DNA analysis.

  1985cited by this paper
• Allele-Specific Hybridization Using Oligonucleotide Probes of Very High Specific Activity: Discrimination of the Human βA- and βS-Globin Genes

  1984cited by this paper
• The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

  1984cited by this paper
• Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes.

  1984cited by this paper
• New M13 vectors for cloning.

  1983cited by this paper
• alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

  1983cited by this paper
• [2] New M13 vectors for cloning

  1983cited by this paper
• Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

  1983cited by this paper
• Mortality in oral contraceptive users.

  1981cited by this paper
• Phenylketonuria: epitome of human biochemical genetics (first of two parts).

  1980cited by this paper
• Phenylketonuria and other phenylalanine hydroxylation mutants in man.

  1980cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• A study of the cause of the high incidence of phenylketonuria in Ireland and west Scotland.

  1976cited by this paper
• Amino acid metabolism and its disorders.

  1973cited by this paper

• Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review

  2025cites this paper
• [Research progress on phenotype and genotype of hyperphenylalaninemia].

  2018cites this paper
• Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU).

  2018cites this paper
• Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

  2017cites this paper
• Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China

  2017cites this paper
• Mismatch discrimination of lipidated DNA and LNA-probes (LiNAs) in hybridization-controlled liposome assembly.

  2016cites this paper
• Molecular genetics and diagnosis of phenylketonuria: state of the art

  2014cites this paper
• Molecular genetics and diagnosis of phenylketonuria : state of the art Expert

  2014cites this paper
• History of medical genetics

  2013cites this paper
• Phenylketonuria from genetics to clinics: An Iranian prospect

  2011cites this paper
• Gene expression to neurobiology and behavior : human brain development and developmental disorders

  2011cites this paper
• Clausena excavata Burm. f. (Rutaceae): A review of its traditional uses, pharmacological and phytochemical properties

  2011cites this paper
• Biological and social influences on cognitive control processes dependent on prefrontal cortex.

  2011cites this paper
• Mécanisme moléculaire de la phénylcétonurie: Du génotype à la prise en charge clinique

  2011cites this paper
• Base molecular de la fenilcetonuria: Del genotipo al tratamiento clínico

  2010cites this paper
• Molecular Basis of Phenylketonuria: From Genotype to Clinical Management

  2010cites this paper
• The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

  2009cites this paper
• The PAH gene, phenylketonuria, and a paradigm shift

  2007cites this paper
• Pre symptomatic Diagnosis of Genetic Disorders

  2007cites this paper
• Genetically Complex and Heterogeneous Diseases

  2006cites this paper
• Pharmacogenetics and Pharmacogenomics

  2006cites this paper
• Phenylketonuria and Its Implications

  2006cites this paper
• Thalassemia Due to Two Novel Nucleotide Substitutions in Consensus Acceptor Splice Sequences of the 9-Globin Gene

  2005cites this paper
• Genetic Analysis Carried Out on Blood-Spots of Phenylalanine Hydroxylase-Deficient Newborns Detected by Northeastern Italian Neonatal Screening

  2005cites this paper
• Human Phenylalanine eation Woe Spot? lase Gene: A

  2005cites this paper
• Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

  2005cites this paper
• Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psychointellectual outcome in patients with PKU

  2005cites this paper
• The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

  2004cites this paper
• Molecular analysis of PKU haplotypes in the population of southern Poland

  2004cites this paper
• PAH 399 GTA(Val)→GTT(Val), a new silent mutation found in the Chinese

  2004cites this paper
• Molecular biology of phenylketonuria

  2004cites this paper
• An altered splice site is found in the DRB4 gene that is not expressed in HLA-DR7, Dw11 individuals

  2004cites this paper
• The cognitive neuroscience of development

  2003cites this paper
• Chapter 29. A Model System for Studying the Role of Dopamine in the Prefrontal Cortex during Early Development in Humans: Early and Continuously Treated Phenylketonuria

  2003cites this paper
• Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.

  2002cites this paper
• Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria.

  2002cites this paper
• Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes

  2002influential citation
• Polymorphic DNA Haplotypes at the Human Low-Density Lipoprotein Receptor Gene Locus in Koreans

  2001cites this paper
• Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

  2000cites this paper
• The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.

  2000cites this paper
• The spectrum of mutations and methods for their detection in the phenylalanine hydroxylase gene in phenylketonuria patients from the novosibirsk region

  2000cites this paper
• [Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].

  2000cites this paper
• Mutation screening of phenylketonuria in the Far East of Russia

  1999influential citation
• Cognitive Deficits in a Genetic Mouse Model of the Most Common Biochemical Cause of Human Mental Retardation

  1999cites this paper
• MINIREVIEW The Structural Basis of Phenylketonuria

  1999cites this paper
• The structural basis of phenylketonuria.

  1999cites this paper
• Structure of Tetrameric Human Phenylalanine Hydroxylase and Its Implications for Phenylketonuria*

  1998cites this paper
• A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.

  1998cites this paper
• A simple and rapid polymerase chain reaction‐based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients

  1997cites this paper
• Molecular genetics of long QT syndrome from genes to patients.

  1997cites this paper
• Phenylketonuria splice mutation (EXON6nt‐96Ag) masquerading as missense mutation (Y204C)

  1997cites this paper
• Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme.

  1996cites this paper
• The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

  1996cites this paper
• [The spectrum of mutational damage to the phenylalanine hydroxylase gene in patients with phenylketonuria in St. Petersburg].

  1995cites this paper
• Rapid screening of genetic polymorphisms using buccal cell DNA with detection by matrix-assisted laser desorption/ionization mass spectrometry.

  1995cites this paper
• Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

  1995cites this paper
• Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

  1995cites this paper
• Complete Spectrum of PAH Mutations in Tataria: Presence of Slavic, Turkic and Scandinavian Mutations

  1995cites this paper
• Systematic search for major genes in schizophrenia: methodological issues and results from chromosome 12.

  1995cites this paper
• In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations

  1995cites this paper
• Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy.

  1995cites this paper
• 1 – Labels, Labeling, Analytical Strategies, and Applications

  1995cites this paper
• Structure and function of the aromatic amino acid hydroxylases.

  1995cites this paper
• Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.

  1995cites this paper
• Phenylalanine levels of 6‐10mg/dl may not be as benign as once thought

  1994cites this paper
• Mutations in the phenylalanine hydroxylase gene: methods for their characterization

  1994cites this paper
• Origins of Hyperphenylalaninemia in Israel

  1994cites this paper
• Luminescent Labels—More than Just an Alternative to Radioisotopes?

  1994cites this paper
• A hereditary C3 deficiency due to aberrant splicing of exon 10.

  1994cites this paper
• Lumineszenzmarker – mehr als nur eine Alternative zu Radioisotopen?

  1994cites this paper
• Molecular analysis of PKU in Ireland

  1994cites this paper
• An animal model of early-treated PKU

  1994cites this paper
• Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients

  1994cites this paper
• RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families

  1993cites this paper
• Hereditary deficiency of C3 in animals and humans.

  1993cites this paper
• The diagnosis of inborn errors of metabolism by examination of the genotype.

  1993cites this paper
• Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

  1993cites this paper
• Phenylketonuria in Spain: RFLP haplotypes and linked mutations

  1993cites this paper
• The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele

  1993cites this paper
• Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

  1993cites this paper
• Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.

  1993cites this paper
• A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

  1993cites this paper
• Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene.

  1993cites this paper
• Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria

  1993cites this paper
• COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome.

  1993cites this paper
• Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

  1993cites this paper
• Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.

  1993cites this paper
• Comparison of genotype and intellectual phenotype in untreated PKU patients.

  1993cites this paper
• U1 small nuclear RNAs with altered specificity can be stably expressed in mammalian cells and promote permanent changes in pre-mRNA splicing

  1993cites this paper
• Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

  1993cites this paper
• The genes involved in the morphogenesis of the eye.

  1993cites this paper
• Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

  1993cites this paper
• Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.

  1993cites this paper
• Genetic background of clinical homogeneity of phenylketonuria in Poland.

  1993cites this paper
• Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

  1993cites this paper
• Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain

  1993cites this paper
• COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome

  1993cites this paper
• [Catalog of mutations of the phenylalanine hydroxylase gene].

  1992cites this paper
• Inhibition of the mutant p53 gene in transformation assays.

  1992cites this paper
• Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

  1992cites this paper