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Crigler-najjar syndrome type 2: Novel UGT1A1 mutation

Publication Type : Journal Article

Publisher : Indian Journal of Human Genetics

Source : Indian Journal of Human Genetics, Volume 18, Number 2, p.233-234 (2012)

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Keywords : adolescent, amino acid substitution, Anas, article, case report, Crigler Najjar syndrome, Crigler Najjar syndrome type 2, exon, female, gene mutation, glucuronosyltransferase 1A1, homozygosity, human, hyperbilirubinemia, leucine, newborn jaundice, phenobarbital, phototherapy, proline

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2012

Abstract : Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation.

Cite this Research Publication : Pa Lohse, Nair, Kb, and Nampoothiri, Sc, “Crigler-najjar syndrome type 2: Novel UGT1A1 mutation”, Indian Journal of Human Genetics, vol. 18, pp. 233-234, 2012.

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