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Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree

BACKGROUND/AIMS—Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analys...

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Bibliografiset tiedot
Päätekijät: Bamashmus, M, Downey, L, Inglehearn, C, Gupta, S, Mansfield, D
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2000
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1723437/
https://ncbi.nlm.nih.gov/pubmed/10729291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.84.4.358
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