Article
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Human molecular genetics - 15 Nov 2008
Chanda Bhaskar, Asai-Coakwell Mika, Ye Ming, Mungall Andrew J, Barrow Margaret, Dobyns William B, Behesti Hourinaz, Sowden Jane C, Carter Nigel P, Walter Michael A, Lehmann Ordan J
Abstract excerpt
The factors that mediate chromosomal rearrangement remain incompletely defined. Among regions prone to structural variant formation, chromosome 6p25 is one of the few in which disease-associated segmental duplications and segmental deletions have been identified, primarily through gene dosage attributable ocular phenotypes. Using array comparative genome hybridization, we studied ten 6p25 duplication and deletion...
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