Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

Congenital nystagmus (NYS) is characterized by bilateral, spontaneous, and involuntary movements of the eyeballs that most commonly presents between 2 and 6 months of life. To date, 44 different FRMD7 gene mutations have been found to be etiological factors for the NYS1 locus at Xq26-q27. The aim of...

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Veröffentlicht in:	European journal of human genetics : EJHG 2012-10, Vol.20 (10), p.1032-1036
Hauptverfasser:	RADHAKRISHNA, Uppala, RATNAMALA, Uppala, ANTONARAKIS, Stylianos E, DEUTSCH, Samuel, BARTOLONI, Lucia, KURACHA, Murali R, SINGH, Raminder, BANWAIT, Jasjit, BASTOLA, Dhundy K, JOHAR, Kaid, NATH, Swapan K
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Amino acids Biological and medical sciences Case-Control Studies Child Codons Consanguinity Cytoskeletal Proteins - chemistry Cytoskeletal Proteins - genetics Exons Female Females Fundamental and applied biological sciences. Psychology Genes, X-Linked - genetics Genetic Diseases, X-Linked - epidemiology Genetic Diseases, X-Linked - genetics Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Hemizygote Heterozygote Homozygote Humans India - epidemiology Male Medical genetics Medical sciences Membrane Proteins - chemistry Membrane Proteins - genetics Middle Aged Missense mutation Molecular and cellular biology Mutation Mutation, Missense - genetics Nystagmus Nystagmus, Congenital - epidemiology Nystagmus, Congenital - genetics Oculomotor disorders Open Reading Frames Ophthalmology Pedigree Point mutation Protein structure Protein Structure, Secondary Proteins Secondary structure Splice junctions Studies X chromosome
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