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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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| Autors principals: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2012
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| Matèries: | |
| Accés en línia: | 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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