A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa Articles uri icon

publication date

  • December 2011

start page

  • 219

end page

  • 221

issue

  • 3

volume

  • 223

international standard serial number (ISSN)

  • 1018-8665

abstract

keywords

  • de novo mutation; dystrophic epidermolysis bullosa; genetic counseling ; skin disease