Article
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
The British journal of dermatology - 1 May 2014
Niizeki H, Shiohama A, Sasaki T, Seki A, Kabashima K, Otsuka A, Takeshita M, Hirakiyama A, Okuyama T, Tanese K, Ishiko A, Amagai M, Kudoh J
Abstract excerpt
No abstract is available from the source.
Topics
- Aged
- Codon, Nonsense
- Female
- Heterozygote
- Humans
- Mutation, Missense
- Organic Anion Transporters
- Osteoarthropathy, Primary Hypertrophic
- Phenotype