The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

10.1038/11914 ◽  
1999 ◽  
Vol 22 (4) ◽  
pp. 347-351 ◽  
Author(s):  
Marek Bodzioch ◽  
Evelyn Orsó ◽  
Jochen Klucken ◽  
Thomas Langmann ◽  
Alfred Böttcher ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Gene Encoding ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

10.1038/11921 ◽  
1999 ◽  
Vol 22 (4) ◽  
pp. 352-355 ◽  
Author(s):  
Stephan Rust ◽  
Marie Rosier ◽  
Harald Funke ◽  
José Real ◽  
Zahir Amoura ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Gene Encoding ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette

Expression of the ATP-Binding Cassette Transporter Gene ABCG1 (ABC8) in Tangier Disease

2001 ◽  
Vol 283 (4) ◽  
pp. 821-830 ◽  
Author(s):  
Stefan Lorkowski ◽  
Mario Kratz ◽  
Claudia Wenner ◽  
Roland Schmidt ◽  
Benedikt Weitkamp ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Tangier Disease ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

A case of tangier disease with a novel mutation in the c-terminal region of ATP-binding cassette transporter A1

2004 ◽  
Vol 130A (4) ◽  
pp. 398-401 ◽  
Author(s):  
Jing-Zhi Guan ◽  
Naoki Tamasawa ◽  
Liam R. Brunham ◽  
Jun Matsui ◽  
Hiroshi Murakami ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Terminal Region ◽  
Atp Binding ◽  
Tangier Disease ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease

2001 ◽  
Vol 154 (3) ◽  
pp. 607-611 ◽  
Author(s):  
Margaret E. Brousseau ◽  
Marek Bodzioch ◽  
Ernst J. Schaefer ◽  
Allison L. Goldkamp ◽  
Danuta Kielar ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Hdl Cholesterol ◽  
Atp Binding ◽  
Common Variants ◽  
Gene Encoding ◽  
Cholesterol Levels ◽  
Atp Binding Cassette Transporter ◽  
Low Hdl ◽  
Atp Binding Cassette
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