Title : Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Pub. Date : 2015 Oct

PMID : 26300074






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 V377I as well as the S135L mutations were identified on the mevalonate kinase deficiency gene and the levels of mevalonic acid in the patient were 5,496 microg/ml. Mevalonic Acid mevalonate kinase Homo sapiens