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Novel mutation in PANK2 associated with retinal telangiectasis
Journal article   Peer reviewed

Novel mutation in PANK2 associated with retinal telangiectasis

Elliott H Sohn, Michel Michaelides, Alan C Bird, Clare J Roberts, Anthony T Moore, Diane Smyth, Angela F Brady and John L Hungerford
British journal of ophthalmology, Vol.95(1), pp.149-150
01/2011
DOI: 10.1136/bjo.2010.183616
PMID: 20974629

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Abstract

Homozygote Genetic Predisposition to Disease - genetics Pantothenate Kinase-Associated Neurodegeneration - genetics Humans Adolescent Female Genotype Male Phosphotransferases (Alcohol Group Acceptor) - genetics Child Retinal Telangiectasis - genetics Frameshift Mutation - genetics

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