(Q74662198)

English

Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II

scientific article published on 01 April 1998

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Crigler-Najjar syndrome

1 reference

based on heuristic

inferred from title

Crigler-Najjar syndrome type 2

1 reference

based on heuristic

inferred from title

author name string

K Yamamoto

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

H Sato

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Y Fujiyama

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Y Doida

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

T Bamba

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

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publication date

1 April 1998

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Biochimica et Biophysica Acta

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1406

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

267-273

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Does Gilbert's disease exist?

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Hepatic Bilirubin UDP-Glucuronyl Transferase Activity in Liver Disease and Gilbert's Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Unconjugated Bilirubin and an Increased Proportion of Bilirubin Monoconjugates in the Bile of Patients with Gilbert's Syndrome and Crigler-Najjar Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Predicted homozygous mis-sense mutation in Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The genetic basis of Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

A unified method for the assay of uridine diphosphoglucuronyltransferase activities toward various aglycones using uridine diphospho[U-14C]glucuronic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Direct determination of usual (Caucasian-type) and atypical (Oriental-type) alleles of the class I human alcohol dehydrogenase-2 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900013-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0925-4439(98)00013-1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9630669%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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