DNA CARRIER DETECTION IN X-LINKED PROGRESSIVE CONE DYSTROPHY

Authors
BERGEN AAB MEIRE F SCHUURMAN EJM DELLEMAN JW
Citation
Aab. Bergen et al., DNA CARRIER DETECTION IN X-LINKED PROGRESSIVE CONE DYSTROPHY, Clinical genetics, 45(5), 1994, pp. 236-240
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
45
Issue
5
Year of publication
1994
Pages
236 - 240
Database
ISI
SICI code
0009-9163(1994)45:5<236:DCDIXP>2.0.ZU;2-A
Abstract
X-linked progressive cone dystrophy (XLPCD) is characterized by progre ssive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogene ous. 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 detection s in XLPCD.