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Details on Person Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII
| Class:Id | LiteratureReference:70305 |
|---|---|
| _displayName | Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII |
| _timestamp | 2003-10-30 07:39:55 |
| author | [Person:70306] Vora, S [Person:70307] DiMauro, S [Person:70308] Spear, D [Person:70309] Harker, D [Person:70310] Danon, MJ |
| journal | J Clin Invest |
| pages | 1479-85 |
| pubMedIdentifier | 2960695 |
| title | Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. |
| volume | 80 |
| year | 1987 |
| (literatureReference) | [CatalystActivityReference:9644014] 6-phosphofructokinase activity of PFK tetramer [cytosol] Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency [DefinedSet:179517] PFK tetramer [cytosol] [Homo sapiens] [Reaction:70467] PFK tetramer phosphorylates Fru(6)P [Homo sapiens] |
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