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Journal Abstract Search
181 related items for PubMed ID: 8596313
1. The genetic basis of Gilbert's syndrome. Sato H, Adachi Y, Koiwai O. Lancet; 1996 Mar 02; 347(9001):557-8. PubMed ID: 8596313 [No Abstract] [Full Text] [Related]
2. [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]. Drenth JP, Peters WH, Jansen JB. Ned Tijdschr Geneeskd; 2002 Aug 10; 146(32):1488-90. PubMed ID: 12198827 [Abstract] [Full Text] [Related]
5. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y. Clin Genet; 2003 Nov 10; 64(5):420-3. PubMed ID: 14616765 [Abstract] [Full Text] [Related]
7. 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. Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Biochim Biophys Acta; 1998 Apr 28; 1406(3):267-73. PubMed ID: 9630669 [Abstract] [Full Text] [Related]
9. Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. Sampietro M, Iolascon A. Haematologica; 1999 Feb 28; 84(2):150-7. PubMed ID: 10091414 [Abstract] [Full Text] [Related]
11. Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. Yildiz D, Alan S, Kilic A, Yaman A, Erdeve O, Kuloglu Z, Atasay B, Arsan S. Genet Couns; 2013 Feb 28; 24(3):273-7. PubMed ID: 24341141 [Abstract] [Full Text] [Related]
12. TATA-box mutant in the promoter of the uridine diphosphate glucuronosyltransferase gene in Italian patients with Gilbert's syndrome. Sampietro M, Lupica L, Perrero L, Romano R, Molteni V, Fiorelli G. Ital J Gastroenterol Hepatol; 1998 Apr 28; 30(2):194-8. PubMed ID: 9675658 [Abstract] [Full Text] [Related]
17. Unconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar disease. Fevery J, Blanckaert N, Heirwegh KP, Préaux AM, Berthelot P. J Clin Invest; 1977 Nov 28; 60(5):970-9. PubMed ID: 409736 [Abstract] [Full Text] [Related]