Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

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Q38123170-9607149E-7C27-4F10-A065-2E0BCC980025 Q38133570-6702E0CC-3B7B-4E54-8A06-ECC5ACC5BB1F

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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http://www.wikidata.org/entity/Q41433988

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

@zh-hk

2012年論文

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2012年论文

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

@en

P1476

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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Karippoth Mohandas Nair

http://www.w3.org/2001/XMLSchema#string

Peter Lohse

http://www.w3.org/2001/XMLSchema#string

Sheela Nampoothiri

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Diagnosis and management of Crigler-Najjar syndrome

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.

Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity.

Orlistat treatment of unconjugated hyperbilirubinemia in Crigler-Najjar disease: a randomized controlled trial.

Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect.

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233-234

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scholarly article

case report

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10.4103/0971-6866.100776

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http://www.w3.org/2001/XMLSchema#string

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http://www.w3.org/2001/XMLSchema#string

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2012-05-01T00:00:00Z

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23162302

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3491300

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

about

P2860

P2860

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932