Clinical utility gene card for: Tangier disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201772.pdf
Reference11 articles.
1. Bodzioch M, Orso E, Klucken J et al: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999; 22: 347–351.
2. Brooks-Wilson A, Marcil M, Clee SM et al: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999; 22: 336–345.
3. Rust S, Rosier M, Funke H et al: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22: 352–355.
4. Fu JKS, Sinai L, Abdel-Razek O et al: Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias. Can J Cardiol 2013; 29: 934–939.
5. Fitzgerald ML, Morris AL, Rhee JS, Andersson LP, Mendez AJ, Freeman MW : Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I. J Biol Chem 2002; 277: 33178–33187.
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