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The novel SLCO 2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype
Author(s) -
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.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.12790
Subject(s) - missense mutation , nonsense mutation , medicine , family medicine , nonsense , pediatrics , university hospital , library science , dermatology , mutation , genetics , biology , gene , computer science