title: The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
authors: Department of Dermatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. niizeki-h@ncchd.go.jp.
authors: H
authors: H
authors: Niizeki
authors: A
authors: A
authors: Shiohama
authors: T
authors: T
authors: Sasaki
authors: A
authors: A
authors: Seki
authors: K
authors: K
authors: Kabashima
authors: A
authors: A
authors: Otsuka
authors: M
authors: M
authors: Takeshita
authors: A
authors: A
authors: Hirakiyama
authors: T
authors: T
authors: Okuyama
authors: K
authors: K
authors: Tanese
authors: A
authors: A
authors: Ishiko
authors: M
authors: M
authors: Amagai
authors: J
authors: J
authors: Kudoh
mesh_terms: D000368:Aged; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D027361:Organic Anion Transporters / Q000235:genetics*; D010004:Osteoarthropathy, Primary Hypertrophic / Q000235:genetics*; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human