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

Aims:This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family.Methods:Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron–exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation a...

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Veröffentlicht in:	British journal of ophthalmology 2008-01, Vol.92 (1), p.135-142
Hauptverfasser:	Kaplan, Y, Vargel, I, Kansu, T, Akin, B, Rohmann, E, Kamaci, S, Uz, E, Ozcelik, T, Wollnik, B, Akarsu, N A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Base Sequence Biological and medical sciences Congenital diseases Cytoskeletal Proteins - genetics Diabetes Mellitus, Type 2 - genetics DNA Mutational Analysis - methods Eye Diseases, Hereditary - genetics Eye movements Female Genes Genetic Diseases, X-Linked - genetics Genetic Linkage Genomes Humans Male Medical sciences Membrane Proteins - genetics Middle Aged Miscellaneous Mutation Mutation, Missense Nystagmus, Congenital - genetics Obesity - genetics Oculomotor disorders Ophthalmology Pedigree X Chromosome Inactivation
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