Two novel HTRA1 mutations in a European CARASIL patient

Neurology. 2014 Mar 11;82(10):898-900. doi: 10.1212/WNL.0000000000000202. Epub 2014 Feb 5.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alopecia / genetics*
  • Cerebral Infarction / genetics*
  • Female
  • High-Temperature Requirement A Serine Peptidase 1
  • Humans
  • Leukoencephalopathies / genetics*
  • Mutation / genetics
  • Phenotype
  • Romania
  • Serine Endopeptidases / genetics*
  • Spinal Diseases / genetics*

Substances

  • High-Temperature Requirement A Serine Peptidase 1
  • HtrA1 protein, human
  • Serine Endopeptidases

Supplementary concepts

  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy