MVK (NM_000431.4) sequence variants

PubMed of the initial paper:

• Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
  International Hyper-IgD Study Group.
  Drenth JP & al
• Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
  Houten SM & al
• Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
  Schafer BL & al
• Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
  Zhang SQ & al.

Variants review:

• Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation
  Boursier G & al

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database
• ORPHANET: Orphan disease database
• ORPHANET: Orphan disease database
• ORPHANET: Orphan disease database