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Q24680462-F783B41D-559C-40A6-A2A3-3D8CBFCED265
Q24680462-F783B41D-559C-40A6-A2A3-3D8CBFCED265
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http://www.wikidata.org/entity/statement/Q24680462-F783B41D-559C-40A6-A2A3-3D8CBFCED265
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia
P2860
Q24680462-F783B41D-559C-40A6-A2A3-3D8CBFCED265
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Statement
http://www.wikidata.org/entity/statement/Q24680462-F783B41D-559C-40A6-A2A3-3D8CBFCED265
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wasDerivedFrom
70638668b6dd9fa7577dbea0567add5610edb3e4
P2860
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein