A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

Clin Genet. 2009 Jul;76(1):108-12. doi: 10.1111/j.1399-0004.2009.01188.x. Epub 2009 Jun 9.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / enzymology*
  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Ethnic Groups / genetics
  • European Continental Ancestry Group / genetics*
  • Exons / genetics*
  • Family
  • Homozygote*
  • Humans
  • Immunohistochemistry
  • Mannosyltransferases / genetics*
  • Molecular Sequence Data
  • Muscles / pathology
  • Mutation / genetics*
  • Spain
  • Syndrome

Substances

  • Mannosyltransferases
  • protein O-mannosyltransferase