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  • Title: Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.
    Author: Schwartz M, Rosenberg T, Niebuhr E, Lundsteen C, Sardemann H, Andersen O, Yang HM, Lamm LU.
    Journal: Hum Genet; 1986 Dec; 74(4):449-52. PubMed ID: 2878872.
    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.
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