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Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.

作者信息

Stiburkova Blanka, Miyata Hiroshi, Závada Jakub, Tomčík Michal, Pavelka Karel, Storkanova Gabriela, Toyoda Yu, Takada Tappei, Suzuki Hiroshi

机构信息

Institute of Rheumatology, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and

Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.

出版信息

Rheumatology (Oxford). 2016 Jan;55(1):191-4. doi: 10.1093/rheumatology/kev350. Epub 2015 Sep 30.

DOI:10.1093/rheumatology/kev350
PMID:26428519
Abstract
摘要

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