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Details on Person Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
| Class:Id | LiteratureReference:9734147 |
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| _displayName | Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient |
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| _timestamp | 2021-06-15 14:51:11 |
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| author | [Person:8863250] Chen, Ju
[Person:9734145] Sahota, Amrik
[Person:9734149] Laxdal, T
[Person:9734176] Scrine, M
[Person:9734151] Bowman, S
[Person:9734165] Cui, C
[Person:5685246] Stambrook, P J
[Person:5687486] Tischfield, Jay A |
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| created | [InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15 |
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| journal | Am J Hum Genet |
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| pages | 1306-11 |
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| pubMedIdentifier | 1746557 |
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| title | Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient |
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| volume | 49 |
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| year | 1991 |
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| (literatureReference) | [FailedReaction:9734193] Defective APRT does not convert adenine to AMP [Homo sapiens]
[EntityWithAccessionedSequence:9734183] APRT D65V [cytosol] [Homo sapiens]
[CatalystActivityReference:9734192] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency |
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