DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria (Q69922938)

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6 October 2019

title

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

1 reference

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acute intermittent porphyria

6 October 2019

main subject

1 reference

J S Lee

1

1 reference

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6 October 2019

M Anvret

2

1 reference

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6 October 2019

J Lindsten

3

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6 October 2019

L Lannfelt

4

1 reference

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6 October 2019

P Gellerfors

5

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6 October 2019

L Wetterberg

6

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6 October 2019

Y Floderus

7

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6 October 2019

S Thunell

8

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6 October 2019

publication date

1 August 1988

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6 October 2019

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6 October 2019

volume

79

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6 October 2019

issue

4

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6 October 2019

page(s)

379-381

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https://scigraph.springernature.com/pub.10.1007/bf00282182

6 October 2019

exact match

0 references

cites work

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

12 December 2020

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

1 reference

12 December 2020

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

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

Excretion of porphobilinogen and 5-aminolaevulinic acid in acute porphyria

1 reference

12 December 2020

The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

12 December 2020

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter

1 reference

12 December 2020

A red cell enzyme method for the diagnosis of acute intermittent porphyria

1 reference

12 December 2020

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities

1 reference

12 December 2020

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect

1 reference

12 December 2020

A MspI polymorphism for the human porphobilinogen deaminase gene

1 reference

12 December 2020