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Q42260164-783653B9-A8FF-4AB9-BBA4-96AC1E77B40D
Q42260164-783653B9-A8FF-4AB9-BBA4-96AC1E77B40D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42260164-783653B9-A8FF-4AB9-BBA4-96AC1E77B40D
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
P2860
Q42260164-783653B9-A8FF-4AB9-BBA4-96AC1E77B40D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42260164-783653B9-A8FF-4AB9-BBA4-96AC1E77B40D
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type
BestRank
Statement
wasDerivedFrom
d4eb9a30122c72d04ef7bd56f94242b5a5544a5f
P2860
3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.