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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

Data up to Jan 2025

Published1990
Citations69
References44

Total Citations Per Year

Abstract

References (44)

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Measurement of protein using bicinchoninic acid

1985 • 17,516 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

“Western Blotting”: Electrophoretic transfer of proteins from sodium dodecyl sulfate-polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A

1981 • 8,657 citations

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

1984 • 6,459 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1984 • 4,899 citations

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1988 • 4,259 citations

SPLICING OF MESSENGER RNA PRECURSORS

1986 • 1,233 citations

Hemoglobin: Molecular, Genetic and Clinical Aspects.

1986 • 1,005 citations

Splicing of Messenger RNA Precursors

1987 • 919 citations

Splicing of Messenger RNA Precursors

1984 • 874 citations

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1986 • 389 citations

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.

1976 • 283 citations

Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns

1989 • 267 citations

The role of the mammalian branchpoint sequence in pre-mRNA splicing.

1988 • 215 citations

UACUAAC is the preferred branch site for mammalian mRNA splicing.

1989 • 180 citations

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 citations

Macrocyclic intermediates in the biosynthesis of porphyrins

1976 • 139 citations

Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.

1983 • 138 citations

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

1986 • 107 citations

Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of Porphyria

1986 • 95 citations

Branch point selection in alternative splicing of tropomyosin pre-mRNAs

1989 • 89 citations

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

1988 • 83 citations

Uroporphyrinogen decarboxylase. Purification, properties, and inhibition by polychlorinated biphenyl isomers.

1983 • 81 citations

Chicken triosephosphate isomerase complements an Escherichia coli deficiency.

1985 • 76 citations

Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase

1983 • 75 citations

Structure of the gene for human uroporphyrinogen decarboxylase

1987 • 67 citations

Investigations of rat liver uroporphyrinogen decarboxylase. Comparisons of porphyrinogens I and III as substrates and the inhibition by porphyrins

1981 • 64 citations

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1989 • 58 citations

Hepatoerythropoietic Porphyria: Clinical, Biochemical, and Enzymatic Studies in a Three-Generation Family Lineage

1987 • 58 citations

Purification of uroporphyrinogen decarboxylase from human erythrocytes. Immunochemical evidence for a single protein with decarboxylase activity in human erythrocytes and liver

1983 • 54 citations

In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?

1987 • 39 citations

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

1988 • 30 citations

Stereochemical and mechanistic studies on the decarboxylation of uroporphyrinogen III in haem biosynthesis

1979 • 30 citations

Uroporphyrinogen decarboxylase. A method for measuring enzyme activity.

1982 • 28 citations

In Vitro Splicing Pathways of Pre-mRNAs Containing Multiple Intervening Sequences

1987 • 24 citations

Assays of the heme biosynthetic enzymes. Preface.

1982 • 11 citations

Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.

1988 • 9 citations

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1989 • 6 citations

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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in… (1990) – Journal of Clinical Investigation | Metascience Observatory Explorer