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Can I read Novel mutations in FRMD7 in X-linked congenital nystagmus on EtoBox?
Novel mutations in FRMD7 in X-linked congenital nystagmus by Daniel F. Schorderet; Leila Tiab; Marie-Claire Gaillard; Birgit Lorenz; Georges Klainguti; John B. Kerrison; Elias I. Traboulsi; Francis L. Munier is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Novel mutations in FRMD7 in X-linked congenital nystagmus about?
Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion. The latter form is called idiopathic or motor nystagmus (CIN). Loci on the X chromosome (NYS1) and on 6p12 (NYS2), 7p11.2 (NYS3), and 13q31-q33 (NYS4) have been identified for CIN. The molecular characterization of NYS1 has recently been solved by Tarpey et al., who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus.
Who reads Novel mutations in FRMD7 in X-linked congenital nystagmus?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Daniel F. Schorderet; Leila Tiab; Marie-Claire Gaillard; Birgit Lorenz; Georges Klainguti; John B. Kerrison; Elias I. Traboulsi; Francis L. Munier
- Publisher
- Hindawi Limited
- Published
- 2007
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)