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Examples
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In 2000, for instance, scientists at four separate labs discovered a gene called ABCC6, which, when mutated, causes PXE (pseudoxanthoma elasticum), a rare genetic disease in which the skin, eyes, heart, and other soft tissue become calcified — rock hard.
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A heroine in that quest was Sharon Terry, who quit her job as a college chaplain following the diagnosis of her two children with a rare genetic disorder, pseudoxanthoma elasticum PE, a progressive disease that produces excess calcium deposits in the body.
The $1,000 Genome Kevin Davies 2010
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Sharon Terry helped researchers identify the first gene mutated in PXE. O. Le Saux et al., “Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum,” Nature Genetics 25 2000, 223–227.
The $1,000 Genome Kevin Davies 2010
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The pathologic hallmark of pseudoxanthoma elasticum (PXE) is ectopic mineralization of soft connective tissues.
Naturejobs - All Jobs Qiujie Jiang 2010
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