Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene.
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[1] T. Matsui,et al. A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter , 2015, PLoS genetics.
[2] A. Shiohama,et al. The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. , 2014, Journal of dermatological science.
[3] H. Okano,et al. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. , 2012, Journal of dermatological science.
[4] Colin A. Johnson,et al. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis , 2012, Human mutation.
[5] Wei-wei Hu,et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. , 2012, American journal of human genetics.
[6] M. Martínez-Lavín. Miscellaneous non-inflammatory musculoskeletal conditions. Pachydermoperiostosis. , 2011, Best practice & research. Clinical rheumatology.
[7] Naiana Bittencourt de Sá,et al. Pachydermoperiostosis: the complete form of the syndrome. , 2011, Anais brasileiros de dermatologia.
[8] D. Bonthron,et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy , 2008, Nature Genetics.
[9] B. Dallapiccola,et al. Pachydermoperiostosis: an update , 2005, Clinical genetics.
[10] L. Bianchi,et al. Pachydermoperiostosis: study of epidermal growth factor and steroid receptors , 1995, The British journal of dermatology.