DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria (Q69906718)

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6 October 2019

title

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria (English)

1 reference

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acute intermittent porphyria

6 October 2019

main subject

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D H Llewellyn

1

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6 October 2019

G H Elder

2

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6 October 2019

N A Kalsheker

3

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6 October 2019

O W Marsh

4

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6 October 2019

P R Harrison

5

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6 October 2019

B Grandchamp

6

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6 October 2019

C Picat

7

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6 October 2019

Y Nordmann

8

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6 October 2019

P H Romeo

9

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6 October 2019

M Goossens

10

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6 October 2019

language of work or name

English

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publication date

1 September 1987

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6 October 2019

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6 October 2019

volume

2

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6 October 2019

page(s)

706-708

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6 October 2019

issue

8561

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Acute hepatic porphyria in Poland

6 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

Alcohol and porphyria

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

A MspI polymorphism for the human porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2887%2991073-7

7 January 2021

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

1 reference

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7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

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7 January 2021

Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's)

1 reference

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7 January 2021

DNA analysis in human disease

1 reference

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7 January 2021

Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locus

1 reference

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7 January 2021

10.1016/S0140-6736(87)91073-7

Identifiers

DOI

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6 October 2019

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