A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

N Engl J Med. 2003 Apr 24;348(17):1664-70. doi: 10.1056/NEJMoa021502.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Cadherin Related Proteins
  • Cadherins / genetics*
  • Chromosomes, Human, Pair 10 / genetics
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Female
  • Founder Effect
  • Genes, Recessive
  • Haplotypes
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Jews / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Protein Precursors / genetics*
  • Retinitis Pigmentosa / genetics*
  • Syndrome

Substances

  • CDHR15, human
  • Cadherin Related Proteins
  • Cadherins
  • Protein Precursors