Exome sequencing in Brown-Vialetto-van Laere syndrome

Am J Hum Genet. 2010 Oct 8;87(4):567-9; author reply 569-70. doi: 10.1016/j.ajhg.2010.05.021.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Base Sequence
  • Bulbar Palsy, Progressive / genetics*
  • Bulbar Palsy, Progressive / pathology
  • Child
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Heterozygote
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics
  • Respiratory Insufficiency / genetics
  • Respiratory Insufficiency / pathology
  • Sequence Analysis, DNA
  • Syndrome

Substances

  • Membrane Transport Proteins
  • SLC52A3 protein, human