Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
The British journal of ophthalmology, vol.92, pp.135-41, 2008 (Journal Indexed in SCI)
Article / Article
Title of Journal :
The British journal of ophthalmology
Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.