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Article

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

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

Cai L, Struk B, Adams M D, Ji W, Haaf T, Kang H L, Dho S H, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith L A, Viljoen D, Figuera L E, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R

Abstract excerpt

We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p 13.1. Here we report further data on the fine-mapping and genomic str...

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PMID: 10759028
DOI: 10.1007/s001090000079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10759028-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.PMID 10759028Read ↗

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.Semantic proximity Read ↗

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.Semantic proximity Read ↗

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.Semantic proximity Read ↗

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.Semantic proximity Read ↗

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.Semantic proximity Read ↗

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.Semantic proximity Read ↗

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.Semantic proximity Read ↗

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