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


Kaplan Y., VARGEL İ. , Kansu T., Akin B., Rohmann E., Kamaci S. , ...Daha Fazla

BRITISH JOURNAL OF OPHTHALMOLOGY, cilt.92, ss.135-141, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 92 Konu: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1136/bjo.2007.128157
  • Dergi Adı: BRITISH JOURNAL OF OPHTHALMOLOGY
  • Sayfa Sayıları: ss.135-141

Özet

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