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Article

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

American journal of human genetics - 1 Aug 1999

Hinson D D, Ross R M, Krisans S, Shaw J L, Kozich V, Rolland M O, Divry P, Mancini J, Hoffmann G F, Gibson K M

Abstract excerpt

Mevalonate kinase (MKase) deficiency (MKD) is a rare autosomal recessive disorder in the pathway of cholesterol and nonsterol isoprenoid biosynthesis. Thus far, two disease-causing missense alleles have been identified, N301T and A334T. We report four additional mutations associated with MKD: L264F, T243I, L265P, and I268T, the last found in a patient of Mennonite ancestry. Electrophoretic analysis of bacterially...

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Identifiers

PMID: 10417275
DOI: 10.1086/302489
PMCID: PMC1377931

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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