Browsing Scholarly Articles by Subject "X-linked disease"

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High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Yatsenko, SA; Bakos, HA; Vitullo, K; Kedrov, M; Kishore, A; Jennings, BJ; Surti, U; ... (12 authors) (Clin Genet, 2016-01)

The human X chromosome contains ∼ 1600 genes, about 15% of which have been associated with a specific genetic condition, mainly affecting males. Blue cone monochromacy (BCM) is an X-linked condition caused by a loss-of-function ...