Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred

Prenat Diagn. 2010 May;30(5):485-6. doi: 10.1002/pd.2485.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amniocentesis
  • China
  • Chromosome Mapping
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation, Missense / genetics
  • Pedigree*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Membrane Transport Proteins
  • SLC33A1 protein, human