(Q68111538)

English

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

scientific article published on 01 April 1992

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577472%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577472%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

acute intermittent porphyria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

D. H. Llewellyn

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577472

10 October 2022

S. J. Smyth

2

1 reference

Europe PubMed Central

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10 October 2022

G. H. Elder

3

1 reference

Europe PubMed Central

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10 October 2022

A. C. Hutchesson

4

1 reference

Europe PubMed Central

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10 October 2022

J. M. Rattenbury

5

1 reference

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10 October 2022

M. F. Smith

6

1 reference

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10 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1577472

10 October 2022

publication date

1 April 1992

1 reference

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21 September 2019

1 reference

Europe PubMed Central

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21 September 2019

89

1 reference

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21 September 2019

1

1 reference

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21 September 2019

97-98

1 reference

Europe PubMed Central

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21 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00207051

0 references

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased erythrocyte protoporphyrin in homozygous variegate porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased protoporphyrin in erythrocytes in a child with acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577472

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00207051

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577472%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577472%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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