Title : Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Pub. Date : 1992 Jul 5

PMID : 1377680






1 Functional Relationships(s)
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1 Approximately half of the mevalonic aciduria cDNA clones encoding mevalonate kinase contained a single base substitution (A to C) in the coding region at nucleotide 902 that changed an asparagine residue to a threonine residue. Threonine mevalonate kinase Homo sapiens