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Article

Molecular genetics of pseudoxanthoma elasticum.

Experimental dermatology - 1 Aug 2001

Ringpfeil F, Pulkkinen L, Uitto J

Abstract excerpt

Pseudoxanthoma elasticum (PXE), a systemic heritable connective tissue disorder, is characterized by progressive calcification of elastic structures in the skin, the eyes and the cardiovascular system, with considerable intra- and interfamilial phenotypic variability. Recently, underlying genetic defects have been identified in the ABCC6 gene, which resides on the chromosomal locus 16p13.1 and encodes the MRP6...

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Source

Identifiers

PMID: 11493310
DOI: 10.1034/j.1600-0625.2001.100401.x

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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