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Year | Number of Results |
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2000 | 1 |
2001 | 1 |
2002 | 2 |
2005 | 2 |
2024 | 0 |
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6 results
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Page 1
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31.
Am J Hum Genet. 2001.
PMID: 11536079
Free PMC article.
Analysis of ABCC6 (MRP6) in normal human tissues.
Beck K, Hayashi K, Dang K, Hayashi M, Boyd CD.
Beck K, et al.
Histochem Cell Biol. 2005 Jun;123(4-5):517-28. doi: 10.1007/s00418-004-0744-3. Epub 2005 May 12.
Histochem Cell Biol. 2005.
PMID: 15889270
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The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly.
Beck K, Dang K, Boyd CD.
Beck K, et al.
J Mol Histol. 2005 Mar;36(3):167-70. doi: 10.1007/s10735-005-0820-6.
J Mol Histol. 2005.
PMID: 15900406
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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD.
Le Saux O, et al.
Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102.
Nat Genet. 2000.
PMID: 10835642
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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD.
Le Saux O, et al.
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
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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
Free article.
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