(Q28258211)

2

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A J Urquhart

3

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S J Smyth

4

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N A Kalsheker

5

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P R Harrison

6

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G H Elder

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

7

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language of work or name

English

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publication date

October 1990

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published in

Human Genetics

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volume

85

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issue

6

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page(s)

631-4

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cites work

1 reference

12 December 2020

Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products

1 reference

12 December 2020

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

12 December 2020

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242.

1 reference

12 December 2020

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

1 reference

12 December 2020

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1 reference

12 December 2020

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

1 reference

12 December 2020