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The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with P apillon– L efèvre syndrome with all permanent teeth remaining at over 40 years of age
Author(s) -
Kobayashi T.,
Sugiura K.,
Takeichi T.,
Akiyama M.
Publication year - 2013
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.12429
Subject(s) - nonsense mutation , missense mutation , genodermatosis , cathepsin c , nonsense , medicine , genetics , dermatology , mutation , cathepsin , biology , gene , biochemistry , enzyme