Article
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.
Molecular medicine reports - 1 May 2017
Guo Ting, Yang Kai, Liu Lv, Tan Zhi-Ping, Luo Hong
Abstract excerpt
Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Asian People
- Base Sequence
- China
- DNA Mutational Analysis
- Exons
- Female
- Genotype
- Heterozygote
- Humans
