Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of biological chemistry - 5 Jul 1992

Schafer B L, Bishop R W, Kratunis V J, Kalinowski S S, Mosley S T, Gibson K M, Tanaka R D

Abstract excerpt

Mevalonic aciduria is the first proposed inherited disorder of the cholesterol/isoprene biosynthetic pathway in humans, and it is presumed to be caused by a mutation in the gene coding for mevalonate kinase. To elucidate the molecular basis of this inherited disorder, a 2.0-kilobase human mevalonate kinase cDNA clone was isolated and sequenced. The 1188-base pair open reading frame coded for a 396-amino acid...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Blotting, Southern

Share to Cells, Cultured

Share to Cloning, Molecular

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 1377680

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.PMID 1377680Read ↗

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.Semantic proximity Read ↗

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.Semantic proximity Read ↗

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.Semantic proximity Read ↗

Evolutionary hypothesis of the Mevalonate Kinase Deficiency.Semantic proximity Read ↗

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.Semantic proximity Read ↗

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.Semantic proximity Read ↗

[Mevalonate kinase deficiency in 2016].Semantic proximity Read ↗

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.Semantic proximity Read ↗

Phosphomevalonate kinase: functional investigation of the recombinant human enzyme.Semantic proximity Read ↗

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiencySemantic proximity Read ↗

Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.Semantic proximity Read ↗

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.