المؤلفون: Sorrenson B; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Suetani RJ, Williams MJ, Bickley VM, George PM, Jones GT, McCormick SP

المصدر: Journal of lipid research [J Lipid Res] 2013 Jan; Vol. 54 (1), pp. 55-62. Date of Electronic Publication: 2012 Oct 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters/*genetics , ATP-Binding Cassette Transporters/*metabolism , Mutation, Missense/*drug effects , Phenylbutyrates/*pharmacology, ATP Binding Cassette Transporter 1 ; Cholesterol, HDL/metabolism ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; HEK293 Cells ; Humans ; Protein Transport/drug effects

المؤلفون: Suetani RJ; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Sorrenson B, Tyndall JD, Williams MJ, McCormick SP

المصدر: Atherosclerosis [Atherosclerosis] 2011 Oct; Vol. 218 (2), pp. 404-10. Date of Electronic Publication: 2011 Jun 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1484 (Electronic) Linking ISSN: 00219150 NLM ISO Abbreviation: Atherosclerosis Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, ATP-Binding Cassette Transporters/*genetics , Tangier Disease/*genetics, ATP Binding Cassette Transporter 1 ; Adenosine Triphosphate/chemistry ; Amino Acid Sequence ; Computational Biology/methods ; Fibroblasts/metabolism ; HEK293 Cells ; Heterozygote ; Humans ; Microscopy, Confocal/methods ; Molecular Sequence Data ; Protein Structure, Secondary ; Protein Structure, Tertiary ; Sequence Homology, Amino Acid

المؤلفون: Sorrenson B; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Suetani RJ, Bickley VM, George PM, Williams MJ, Scott RS, McCormick SP

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2011 Jun 10; Vol. 409 (3), pp. 400-5. Date of Electronic Publication: 2011 May 07.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters/*genetics , Tangier Disease/*genetics, ATP Binding Cassette Transporter 1 ; Aged ; Cholesterol/metabolism ; Female ; HEK293 Cells ; Humans ; Male ; Mutation ; Pedigree ; Tangier Disease/metabolism

المؤلفون: Slatter TL; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Jones GT, Williams MJ, van Rij AM, McCormick SP

المصدر: Clinical genetics [Clin Genet] 2008 Feb; Vol. 73 (2), pp. 179-84.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters/*genetics , Cholesterol, HDL/*blood , Promoter Regions, Genetic/*genetics, ATP Binding Cassette Transporter 1 ; Aged ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

المؤلفون: Slatter TL; Department of Biochemistry, University of Otago, P.O. Box 56, 710 Cumberland St., Dunedin 9001, Otago, New Zealand., Williams MJ, Frikke-Schmidt R, Tybjaerg-Hansen A, Morison IM, McCormick SP

المصدر: Atherosclerosis [Atherosclerosis] 2006 Aug; Vol. 187 (2), pp. 393-400. Date of Electronic Publication: 2005 Oct 12.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-9150 (Print) Linking ISSN: 00219150 NLM ISO Abbreviation: Atherosclerosis Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters/*genetics , Promoter Regions, Genetic/*genetics , Tangier Disease/*genetics, ATP Binding Cassette Transporter 1 ; ATP-Binding Cassette Transporters/chemistry ; Adult ; Amino Acid Sequence ; Base Sequence ; Cholesterol, HDL/blood ; Coronary Artery Disease/blood ; Coronary Artery Disease/genetics ; Family Health ; Female ; Genetic Testing ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Protein Structure, Tertiary ; Tangier Disease/blood