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Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Mol Vis. 2006 Aug 11;12:909-14.
Mol Vis. 2006.
PMID: 16917484
Free article.
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.
Chakarova CF, et al.
Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26.
Am J Hum Genet. 2007.
PMID: 17924349
Free PMC article.
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Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer ND, Hysi PG, Hardcastle AJ, Tuft SJ, Bhattacharya SS.
Liskova P, et al.
Br J Ophthalmol. 2008 Feb;92(2):265-7. doi: 10.1136/bjo.2007.125252. Epub 2007 Oct 25.
Br J Ophthalmol. 2008.
PMID: 17962390
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