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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Mol Vis. 2008 Jun 6;14:1081-93.
Mol Vis. 2008.
PMID: 18552978
Free PMC article.
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
Lorenz B, Poliakov E, Schambeck M, Friedburg C, Preising MN, Redmond TM.
Lorenz B, et al. Among authors: schambeck m.
Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5235-42. doi: 10.1167/iovs.07-1671. Epub 2008 Jul 3.
Invest Ophthalmol Vis Sci. 2008.
PMID: 18599565
Free PMC article.
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Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B.
Friedburg C, et al. Among authors: schambeck m.
Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8621-9. doi: 10.1167/iovs.11-8187.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21911584
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