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DNA carrier detection in X-linked progressive cone dystrophy.

作者信息

Bergen A A, Meire F, Schuurman E J, Delleman J W

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Clin Genet. 1994 May;45(5):236-40. doi: 10.1111/j.1399-0004.1994.tb04148.x.

Abstract

X-linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established. Here, we describe the first DNA carrier detections in XLPCD.

摘要

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