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Genomics. 1994 Mar 15;20(2):317-9.

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.

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Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Universität München, Germany.


Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. The disease locus has recently been assigned to 11q13-q23 by linkage studies in two families. Two-point analysis on a total of four families has now revealed close linkage (Zmax = 8.34 at theta = 0.00) between the disease locus and D11S873. Multipoint linkage analysis mapped the disease locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. No evidence appeared for genetic/linkage heterogeneity among the four families examined.

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