Literature DB >> 8076408

DNA carrier detection in X-linked progressive cone dystrophy.

A A Bergen1, F Meire, E J Schuurman, J W Delleman.   

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.

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Year:  1994        PMID: 8076408     DOI: 10.1111/j.1399-0004.1994.tb04148.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Authors:  F Yesim K Demirci; Brian W Rigatti; Gaiping Wen; Amy L Radak; Tammy S Mah; Corrine L Baic; Elias I Traboulsi; Tiina Alitalo; Juliane Ramser; Michael B Gorin
Journal:  Am J Hum Genet       Date:  2002-02-20       Impact factor: 11.025

  1 in total

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