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PAHdb 2003: What a locus-specific knowledgebase can do

Human mutation, 2003-04, Vol.21 (4), p.333-344

2003

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Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

The New England journal of medicine, 1991-05, Vol.324 (18), p.1232-1238

1991

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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Journal of the American Society of Nephrology, 2018-07, Vol.29 (7), p.1849-1858

2018

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

Biochemistry (Easton), 1992-09, Vol.31 (35), p.8363-8368

1992

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TurboPrep II: An Inexpensive, High-Throughput Plasmid Template Preparation Protocol

BioTechniques, 1998-02, Vol.24 (2), p.286-293

1998

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Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

Circulation. Arrhythmia and electrophysiology, 2016-06, Vol.9 (6)

2016

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An Alternatively Spliced Form of the Human Lysosome-Associated Membrane Protein-2 Gene Is Expressed in a Tissue-Specific Manner

Biochemical and biophysical research communications, 1995-10, Vol.215 (2), p.757-767

1995

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Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

Molecular genetics and metabolism, 1999-08, Vol.67 (4), p.308-316

1999

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Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

Biochemistry (Easton), 1988-04, Vol.27 (8), p.2881-2885

1988

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Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

American journal of human genetics, 1992-09, Vol.51 (3), p.627-636

1992

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Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

Differentiation (London), 1999-07, Vol.65 (1), p.43-58

1999

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Glycerol Increases the Yield and Activity of Human Phenylalanine Hydroxylase Mutant Enzymes Produced in a Prokaryotic Expression System

Molecular genetics and metabolism, 2001-06, Vol.73 (2), p.173-178

2001

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A strategy for the selection of transcribed sequences in the Xq28 region

Human molecular genetics, 1992-07, Vol.1 (4), p.235-242

1992

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Alternative splicing in the fragile X gene FMR1

Human molecular genetics, 1993-04, Vol.2 (4), p.399-404

1993

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Structure, Expression, and Mutation of the Hypoxanthine Phosphoribosyltransferase Gene

Proceedings of the National Academy of Sciences - PNAS, 1984-04, Vol.81 (7), p.2147-2151

1984

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Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome

European journal of human genetics : EJHG, 2000-11, Vol.8 (11), p.875-883

2000

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The phenylketonuria locus : current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

Human genetics, 1991-08, Vol.87 (4), p.377-388

1991

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The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

Molecular genetics and metabolism, 2000-03, Vol.69 (3), p.204-212

2000

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PKU and NON-PKU Hyperphenylalaninemia: Differentiation, Indication for Therapy and Therapeutic Results

Pediatrics international, 1988-08, Vol.30 (4), p.397-404

1988

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The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

Molecular genetics and metabolism, 2000-03, Vol.69 (3), p.195-203

2000

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DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

Human genetics, 1994-09, Vol.94 (3), p.307-310

1994

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construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection

Human molecular genetics, 1993-11, Vol.2 (11), p.1865-1869

1993

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Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

Nucleic acids research, 1982-11, Vol.10 (21), p.6763-6775

1982

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Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2

Cancer research (Chicago, Ill.), 1992-05, Vol.52 (9), p.2590-2595

1992

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Polyamines are necessary for maximum in vitro synthesis of globin peptides and play a role in chain initiation

Archives of biochemistry and biophysics, 1975-07, Vol.169 (1), p.192-198

1975

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PAHdb 2003: What a locus-specific knowledgebase can do

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

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

TurboPrep II: An Inexpensive, High-Throughput Plasmid Template Preparation Protocol

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

An Alternatively Spliced Form of the Human Lysosome-Associated Membrane Protein-2 Gene Is Expressed in a Tissue-Specific Manner

Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

Glycerol Increases the Yield and Activity of Human Phenylalanine Hydroxylase Mutant Enzymes Produced in a Prokaryotic Expression System

A strategy for the selection of transcribed sequences in the Xq28 region

Alternative splicing in the fragile X gene FMR1

Structure, Expression, and Mutation of the Hypoxanthine Phosphoribosyltransferase Gene

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome

The phenylketonuria locus : current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

PKU and NON-PKU Hyperphenylalaninemia: Differentiation, Indication for Therapy and Therapeutic Results

The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection

Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

Metaphase and interphase cytogenetics with Alu-PCR-amplified yeast artificial chromosome clones containing the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erbB-2

Polyamines are necessary for maximum in vitro synthesis of globin peptides and play a role in chain initiation

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