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FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

AuthorsJudit García-Villoria, Begoña De Azua, Frederic Tort, Signe Mosegaard, Olatz Ugarteburu, Laura Texidó, Blai Morales-Romero, Rikke K J Olsen, Antonia Ribes
JournalClinical genetics (Clin Genet) Vol. 94 Issue 6 Pg. 592-593 (12 2018) ISSN: 1399-0004 [Electronic] Denmark
PMID30427553 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Nucleotidyltransferases
  • FMN adenylyltransferase
Topics
  • Alleles
  • Amino Acid Substitution
  • Cataract (diagnosis, genetics)
  • Fibroblasts (metabolism)
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Muscular Diseases (diagnosis, genetics)
  • Mutation
  • Nucleotidyltransferases (genetics)
  • Scoliosis (diagnosis, genetics)

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