Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.


Kaplan Y., Vargel I., Kansu T., Akin B., Rohmann E., Kamaci S., ...More

The British journal of ophthalmology, vol.92, pp.135-41, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 92
  • Publication Date: 2008
  • Doi Number: 10.1136/bjo.2007.128157
  • Title of Journal : The British journal of ophthalmology
  • Page Numbers: pp.135-41

Abstract

Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.