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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Hum Genet. 2002 Oct;111(4-5):331-8. doi: 10.1007/s00439-002-0808-1. Epub 2002 Sep 7.
Hum Genet. 2002.
PMID: 12384774
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
Iliás A, Urbán Z, Seidl TL, Le Saux O, Sinkó E, Boyd CD, Sarkadi B, Váradi A.
Iliás A, et al.
J Biol Chem. 2002 May 10;277(19):16860-7. doi: 10.1074/jbc.M110918200. Epub 2002 Mar 5.
J Biol Chem. 2002.
PMID: 11880368
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