(Q28140057)

English

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

scientific article (publication date: October 2000)

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Europe PubMed Central

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

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author name string

A Kadakol

1

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S S Ghosh

2

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B S Sappal

3

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G Sharma

4

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J R Chowdhury

5

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N R Chowdhury

6

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language of work or name

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publication date

October 2000

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16

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4

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297-306

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

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21 January 2018

A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.

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21 January 2018

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

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Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzyme

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

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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

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

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Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect.

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Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanine

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

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21 January 2018

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

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21 January 2018

The Reciprocal Relation between Caloric Intake and the Degree of Hyperbilirubinemia in Gilbert's Syndrome

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

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Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation

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Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.

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

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Identifiers

10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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