Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome (Q78434081)

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14 December 2019

title

Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome (English)

1 reference

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14 December 2019

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Philippe Labrune

1

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14 December 2019

Anne Myara

2

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14 December 2019

Jacqueline Chalas

3

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14 December 2019

Béatrice Le Bihan

4

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14 December 2019

Liliane Capel

5

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14 December 2019

Jeanne Francoual

6

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14 December 2019

publication date

1 November 2002

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14 December 2019

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14 December 2019

volume

20

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14 December 2019

issue

5

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14 December 2019

page(s)

399-401

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

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

Determination of bilirubin UDP-glucuronyl transferase activity in needle-biopsy specimens of human liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10122

21 January 2018

Identifiers

DOI

10.1002/HUMU.10122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402338%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

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