Literature DB >> 11182932

Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.

A Iolascon, A Meloni, B Coppola, M C Rosatelli.   

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Year:  2000        PMID： 11182932      PMCID： PMC1734687          DOI： 10.1136/jmg.37.9.712

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

Authors:  Hamid Galehdari; Najmaldin Saki; Javad Mohammadi-Asl; Fakher Rahim
Journal:  Int J Mol Epidemiol Genet       Date:  2013-06-25

2.  Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Authors:  Fakher Rahim; Hamid Galehdari; Javad Mohammadi-Asl; Najmaldin Saki
Journal:  Genet Res Int       Date:  2013-08-13

3.  Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.

Authors:  Can Li; Qiang Wu
Journal:  BMC Evol Biol       Date:  2007-05-02       Impact factor: 3.260

4.  UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation.

Authors:  Javad Mohammadi Asl; Mohammad Amin Tabatabaiefar; Hamid Galehdari; Kourosh Riahi; Mohammad Hosein Masbi; Zohre Zargar Shoshtari; Fakher Rahim
Journal:  Biomed Res Int       Date:  2013-10-28       Impact factor: 3.411

5.  UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease.

Authors:  Zainab Hamad; Abdullah Aljedai; Rabih Halwani; Abdulrahman AlSultan
Journal:  Ann Saudi Med       Date:  2013 Jul-Aug       Impact factor: 1.526
  5 in total

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