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

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

BRITISH JOURNAL OF OPHTHALMOLOGY, cilt.92, sa.1, ss.135-141, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92 Sayı: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1136/bjo.2007.128157
  • Dergi Adı: BRITISH JOURNAL OF OPHTHALMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.135-141
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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