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., ...Daha Fazla

The British journal of ophthalmology, cilt.92, ss.135-41, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1136/bjo.2007.128157
  • Dergi Adı: The British journal of ophthalmology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.135-41
  • Bursa Uludağ Üniversitesi Adresli: Hayır

Özet

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