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A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

BioTechniques, 1992-07, Vol.13 (1), p.106

1992

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The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis

The Journal of biological chemistry, 1989-09, Vol.264 (25), p.14829-14834

1989

Volltextzugriff (PDF)

Two different point G to a mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

The Journal of clinical investigation, 1990-11, Vol.86 (5), p.1511-1516

1990

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Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria

Proceedings of the National Academy of Sciences - PNAS, 1989-01, Vol.86 (2), p.661-664

1989

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A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Nucleic acids research, 1989, Vol.17 (16), p.6637-6649

1989

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PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)

Nucleic acids research, 1991-09, Vol.19 (18), p.5099-5099

1991

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Molecular heterogeneity of acute intermittent porphyria : identification of four additional mutations resulting in the CRIM-negative subtype of the disease

American journal of human genetics, 1991-08, Vol.49 (2), p.421-428

1991

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Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

European journal of clinical investigation, 1989-10, Vol.19 (5), p.415-418

1989

Volltextzugriff (PDF)

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

Journal of inherited metabolic disease, 1990-09, Vol.13 (5), p.684-686

1990

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Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis

Blood, 1986-06, Vol.67 (6), p.1661-1667

1986

Volltextzugriff (PDF)

ENZYMOPATHIES INDUCED BY DRUGS AND ACUTE LEUKAEMIA

British journal of haematology, 1982-09, Vol.52 (1), p.165-166

1982

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Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family: transmission of the same molecular defect in spectrin through three generations with different clinical expression

Human genetics, 1987-12, Vol.77 (4), p.329-334

1987

Volltextzugriff (PDF)

Functional analysis of DNase-I hypersensitive sites at the mouse porphobilinogen deaminase gene locus. Different requirements for position-independent expression from its two promoters

The Journal of biological chemistry, 1995-07, Vol.270 (29), p.17368-17374

1995

Volltextzugriff (PDF)

A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Nucleic acids research, 1989-08, Vol.17 (16), p.6637-6649

1989

Volltextzugriff (PDF)

A liver-type mutation in a case of pronounced erythrocyte phosphofructokinase deficiency without clinical expression

Biochimica et biophysica acta, 1983-09, Vol.759 (3), p.236-242

1983

Volltextzugriff (PDF)

Uroporphyrinogen Decarboxylase Structural Mutant (Gly$^{281}$ $\rightarrow $ Glu) in a Case of Porphyria

Science (American Association for the Advancement of Science), 1986-11, Vol.234 (4777), p.732-734

1986

Volltextzugriff (PDF)

Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France

Human genetics, 1980-07, Vol.55 (1), p.125-127

1980

Volltextzugriff (PDF)

Hereditary pyropoikilocytosis and elliptocytosis in a white french family with the spectrin αI/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin αI domain

Blood, 1990-04, Vol.75 (8), p.1691-1698

1990

Volltextzugriff (PDF)

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation

The Journal of clinical investigation, 1991-07, Vol.88 (1), p.76-81

1991

Volltextzugriff (PDF)

PCR detection of a C/T polymorphism in exon 1 of the prophobilinogen deaminase gene (PBGD)

Nucleic acids research, 1991, Vol.19 (18)

1991

Volltextzugriff (PDF)

Phosphofructokinase isozymes from human organs and blood cells

Enzyme (Basel), 1979, Vol.24 (1), p.61

1979

Volltextzugriff (PDF)

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

Human genetics, 1991-08, Vol.87 (4), p.484-488

1991

Volltextzugriff (PDF)

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoietic form

Nucleic acids research, 1988-04, Vol.16 (7), p.3102-3102

1988

Volltextzugriff (PDF)

The Mouse Porphobilinogen Deaminase Gene

The Journal of biological chemistry, 1989-09, Vol.264 (25), p.14829-14834

1989

Volltextzugriff (PDF)

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

Human genetics, 1988, Vol.78 (1), p.101-102

1988

Volltextzugriff (PDF)

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A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis

Two different point G to a mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria

A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)

Molecular heterogeneity of acute intermittent porphyria : identification of four additional mutations resulting in the CRIM-negative subtype of the disease

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis

ENZYMOPATHIES INDUCED BY DRUGS AND ACUTE LEUKAEMIA

Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family: transmission of the same molecular defect in spectrin through three generations with different clinical expression

Functional analysis of DNase-I hypersensitive sites at the mouse porphobilinogen deaminase gene locus. Different requirements for position-independent expression from its two promoters

A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

A liver-type mutation in a case of pronounced erythrocyte phosphofructokinase deficiency without clinical expression

Uroporphyrinogen Decarboxylase Structural Mutant (Gly$^{281}$ $\rightarrow $ Glu) in a Case of Porphyria

Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France

Hereditary pyropoikilocytosis and elliptocytosis in a white french family with the spectrin αI/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin αI domain

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation

PCR detection of a C/T polymorphism in exon 1 of the prophobilinogen deaminase gene (PBGD)

Phosphofructokinase isozymes from human organs and blood cells

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoietic form

The Mouse Porphobilinogen Deaminase Gene

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

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