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., ...More

BRITISH JOURNAL OF OPHTHALMOLOGY, vol.92, no.1, pp.135-141, 2008 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 92 Issue: 1
• Publication Date: 2008
• Doi Number: 10.1136/bjo.2007.128157
• Journal Name: BRITISH JOURNAL OF OPHTHALMOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.135-141
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes

Abstract

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