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 [4]

A. Kadakol, B. S. Sappal, S. S. Ghosh, M. Lowenheim, A. Chowdhury, S. Chowdhury, A. Santra, I. M. Arias, Jayanta Roy-Chowdhury, N. R. Chowdhury

Research output: Contribution to journalArticle

50 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)244-249
Number of pages6
JournalJournal of Medical Genetics
Volume38
Issue number4
StatePublished - 2001

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DNA Mutational Analysis
Crigler-Najjar Syndrome
Gilbert Disease
Kernicterus
Neonatal Jaundice
Glucuronosyltransferase
Hyperbilirubinemia
COS Cells
Missense Mutation
Genetic Promoter Regions
Codon
Plasmids
Western Blotting
Newborn Infant
Mutation
DNA
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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 [4]. / Kadakol, A.; Sappal, B. S.; Ghosh, S. S.; Lowenheim, M.; Chowdhury, A.; Chowdhury, S.; Santra, A.; Arias, I. M.; Roy-Chowdhury, Jayanta; Chowdhury, N. R.

In: Journal of Medical Genetics, Vol. 38, No. 4, 2001, p. 244-249.

Research output: Contribution to journalArticle

Kadakol, A. ; Sappal, B. S. ; Ghosh, S. S. ; Lowenheim, M. ; Chowdhury, A. ; Chowdhury, S. ; Santra, A. ; Arias, I. M. ; Roy-Chowdhury, Jayanta ; Chowdhury, N. R. / 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 [4]. In: Journal of Medical Genetics. 2001 ; Vol. 38, No. 4. pp. 244-249.
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