Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant −1 position of the acceptor site of intron 1 (c.97−1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the ca...

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Bibliographische Detailangaben
Hauptverfasser: Zhang, Zhenlin, Xia, Weibo, He, Jinwei, Zhang, Zeng, Ke, Yaohua, Yue, Hua, Wang, Chun, Zhang, Hao, Gu, Jiemei, Hu, Weiwei, Fu, Wenzhen, Hu, Yunqiu, Li, Miao, Liu, Yujuan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257902/
https://ncbi.nlm.nih.gov/pubmed/22197487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.019
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