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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
scientific article published on 22 March 2011
Author/s
author: Francisco Martinez, Silvestre Oltra, Sandra Monfort, Rudolf Happle, Karl-Heinz Grzeschik
Work details
Publication date
March 22, 2011
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Language
English
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