(Q47928550)

6 February 2018

title

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease. (English)

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6 February 2018

4

I S Owens

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6 February 2018

author name string

M Ciotti

series ordinal

1

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6 February 2018

F Chen

series ordinal

2

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6 February 2018

F F Rubaltelli

series ordinal

3

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6 February 2018

publication date

1 July 1998

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6 February 2018

Biochimica et Biophysica Acta

published in

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6 February 2018

volume

1407

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6 February 2018

issue

1

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6 February 2018

page(s)

40-50

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6 February 2018

Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Enhancement of glucuronide-conjugating capacity in a hyperbilirubinemic infant due to apparent enzyme induction by phenobarbital

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

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%2900030-1

7 January 2021

Treatment of Gilbert's syndrome with phenobarbitone.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Effect of sodium phenobarbital on bilirubin metabolism in an infant with congenital, nonhemolytic, unconjugated hyperbilirubinemia, and kernicterus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

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%2900030-1

7 January 2021

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%2900030-1

7 January 2021

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%2900030-1

7 January 2021

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%2900030-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

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%2900030-1

7 January 2021

Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900030-1

7 January 2021

10.1016/S0925-4439(98)00030-1

Identifiers

DOI

1 reference

6 February 2018

PubMed ID

9639672

1 reference

6 February 2018