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Article

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2000

Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim C A, Goldsmith L A, Viljoen D, Figuera L E, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner K H, Lindpaintner K

Abstract excerpt

We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Here we report the identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one...

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PMID: 10954200
DOI: 10.1007/s001090000114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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