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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Afri...

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Afri...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72187667

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

About this item

Full title

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

Publisher

Heidelberg: Springer

Journal title

Human genetics, 2002-10, Vol.111 (4-5), p.331-338

Language

English

Formats

Publication information

Publisher

Heidelberg: Springer

More information

Scope and Contents

Contents

Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is...

Alternative Titles

Full title

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_72187667

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72187667

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-002-0808-1

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