ATM Gene Variants in Patients with Idiopathic Perifoveal Telangiectasia

To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). Thirty patients with diagnoses of IPT underwe...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2008-09, Vol.49 (9), p.3806-3811
Hauptverfasser:	Barbazetto, Irene A, Room, Miia, Yannuzzi, Nicholas A, Barile, Gaetano R, Merriam, Joanna E, Bardal, Anne M. C, Freund, K. Bailey, Yannuzzi, Lawrence A, Allikmets, Rando
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Ataxia Telangiectasia - diagnostic imaging Ataxia Telangiectasia - genetics Ataxia Telangiectasia - pathology Ataxia Telangiectasia Mutated Proteins Biological and medical sciences Cell Cycle Proteins - genetics Dermatology DNA-Binding Proteins - genetics Eye and associated structures. Visual pathways and centers. Vision Female Fovea Centralis - diagnostic imaging Fovea Centralis - pathology Fundamental and applied biological sciences. Psychology Genetic Variation Humans Macula Lutea - diagnostic imaging Macula Lutea - pathology Male Medical sciences Middle Aged Ophthalmology Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Protein-Serine-Threonine Kinases - genetics Radiography Tumor Suppressor Proteins - genetics Vascular disorders of the skin Vertebrates: nervous system and sense organs Visual Acuity
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