Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation.

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dc.contributor.authorNair, Karippoth Mohandas
dc.contributor.authorLohse, Peter
dc.contributor.authorNampoothiri, Sheela
dc.date.accessioned2012-11-22T05:45:19Z
dc.date.available2012-11-22T05:45:19Z
dc.date.issued2012-05
dc.description.abstractCrigler-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.en_US
dc.identifier.citationNair Karippoth Mohandas, Lohse Peter, Nampoothiri Sheela. Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. Indian Journal of Human Genetics. 2012 May; 18(2): 233-234.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143277
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=233;epage=234;aulast=Nairen_US
dc.subjectArias syndromeen_US
dc.subjectCrigler-Najjar syndrome type 2en_US
dc.subjectkernicterusen_US
dc.subjectUGT1A1en_US
dc.subjectunconjugated hyperbilirubinemiaen_US
dc.subject.meshAdult
dc.subject.meshAdolescent
dc.subject.meshBilirubin --genetics
dc.subject.meshConsanguinity
dc.subject.meshCrigler-Najjar Syndrome --genetics
dc.subject.meshFemale
dc.subject.meshGlucuronosyltransferase --genetics
dc.subject.meshHumans
dc.subject.meshHyperbilirubinemia --genetics
dc.subject.meshMale
dc.subject.meshMutation
dc.titleCrigler-Najjar syndrome type 2: Novel UGT1A1 mutation.en_US
dc.typeArticleen_US
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