Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

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Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

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name

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

@ast

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

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type

Item

label

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

@ast

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

@en

prefLabel

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

@ast

Identification of Promotor and ...... conjugated Hyperbilirubinemia.

@en

P1476

Identification of Promotor and ...... nconjugated Hyperbilirubinemia

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P2093

Anjana Kar

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Ashwin Dalal

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Neha Gupta

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Sachin Dev Munjal

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P2860

Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype

Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

MutationTaster evaluates disease-causing potential of sequence alterations

Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene.

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.

Predicting the functional effect of amino acid substitutions and indels

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study.

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e0145967

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scholarly article

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10.1371/JOURNAL.PONE.0145967

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English

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P478

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Rakesh Aggarwal

Arkaprabha Sarangi

Mercilena Benjamin

P577

2015-12-30T00:00:00Z

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P5875

288827617

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26716871

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P921

bilirubin metabolic disorder

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4696816

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