Choroideremia: further evidence for assignment of the locus to Xq13?Xq21
- 1 December 1986
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 74 (4) , 449-452
- https://doi.org/10.1007/bf00280505
Abstract
Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13–Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13–Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.This publication has 24 references indexed in Scilit:
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