The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.

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

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.

Affiliation

Niizeki H; 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.

Br J Dermatol ; 170(5): 1187-9, 2014 May.

Article in En | MEDLINE | ID: mdl-24329728

Subject(s)

Codon, Nonsense/genetics; Mutation, Missense/genetics; Organic Anion Transporters/genetics; Osteoarthropathy, Primary Hypertrophic/genetics; Aged; Female; Heterozygote; Humans; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Osteoarthropathy, Primary Hypertrophic / Codon, Nonsense / Mutation, Missense / Organic Anion Transporters Limits: Aged / Female / Humans Language: En Year: 2014 Type: Article

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