Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG - Wikidata - awgldk - TriplyDB

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

http://www.wikidata.org/entity/Q55214617

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Defective UGT1A1 causes hyperbilirubinemia

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Q45316497-4774A6DE-B3D3-49A2-BC64-37C3638917D3

P527

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

http://www.wikidata.org/entity/Q55214617

description

An instance of the biological ...... DP-GlcA to BMG in Homo sapiens

@en

biologisch proces

@nl

name

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

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type

label

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

@en

prefLabel

Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG

@en

P2860

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Q55214617-CC8E54F4-812E-448D-B60A-A5D5ABC419D8

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Q55214617-F6932BCA-9704-4ACA-AABA-342153A7DF5A

P2888

Q55214617-AA0069DD-15DE-4A49-87FD-5C8FDE3F4304

P31

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P527

Q55214617-48AA9E5B-4397-4A09-B90A-A03012B8F759

Q55214617-54F3DECF-910C-4EBD-9D48-55F4CF96A116

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Q55214617-12EEA530-D0A8-484C-A451-0F96F3E1E162

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Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I

Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.

Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.

Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.

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reactome:R-HSA-9036102

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biological process

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Defective UGT1A1 causes hyperbilirubinemia

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R-HSA-9036102

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

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mono(glucosyluronic acid)bilirubin

uridine diphosphate glucuronic acid

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