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 (SCI-Expanded) identifier identifier identifier

Abstract

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