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-  2018 

原发性肥大性骨关节病新发现SLCO2A1杂合突变c.1624C>T 1例

DOI: 10.6040/j.issn.1671-7554.0.2017.1249

Keywords: SLCO2A1基因,原发性肥大性骨关节病,突变,

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References

[1]  Sihoon Lee, So Young Park, Hyun Jin Kwon, et al. Identification of the mutations in the prostaglandin transporter Gene, SLCO2A1 and clinical characterization in orean patients with pachydermoperiostosis[J]. J Korean Med Sci, 2016, 31(5): 735-742.
[2]  Zhang Z, Zhang C, Zhang Z. Primary hypertrophic osteoarthropathy: an update[J]. Front Med, 2013, 7(1): 60-64.
[3]  Castori M, Sinibaldi L, Mingarelli R, et al. Pachydermoperiostosis: an update[J]. Clin Genet, 2005, 68(6): 477-486.
[4]  张增, 章振林. 原发性肥大性骨关节病临床与基础研究进展[J]. 中华骨质疏松和骨矿盐疾病杂志, 2014, 7(4): 293-297. ZHANG Zeng, ZHANG Zhenlin. Clinical and basic research progress in primary hypertrophic osteoarthropathy[J]. Chinese Journal of Osteoporosis and Bone Mineral Research, 2014, 7(4): 293-297.
[5]  Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy[J]. Nat Genet, 2008, 40(6): 789-793.
[6]  Zhang Z, Xia W, He J, et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy[J]. Am J Hum Genet, 2012, 90(1): 125-132.
[7]  杜然, 范亮亮, 黄皓, 等. 原发性厚皮性骨膜病的遗传学研究进展[J]. 中华医学遗传学杂志, 2016, 33(1): 105-107. DU Ran, FAN Liangliang, HUANG Hao, et al. Progress in genetic research 011 pachydermoperiostosis[J]. Chinese Journal of Medical Genetics, 2016, 33(1): 105-107.

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