Publication Type:

Journal Article

Source:

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

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84866481172&partnerID=40&md5=6c9735b0e19539d0154252729dde673e

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

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.

Notes:

cited By (since 1996)2

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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