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Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Ophoff RA, et al. Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28. Am J Hum Genet. 2001. PMID: 11438888 Free PMC article.
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB, et al. Bull LN, et al. Hum Genet. 1999 Mar;104(3):241-8. doi: 10.1007/pl00008714. Hum Genet. 1999. PMID: 10323248
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