Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants

Tatsuhiro Noda, Takuya Takeichi, Kana Tanahashi, Yasushi Ogawa, So Takeuchi, Takenori Yoshikawa, Erika Toriyama, Miwa Ashida, Sumihisa Imakado, Hitoshi Tsuchihashi, Takashi Okamoto, Yusuke Okuno, Tomoo Ogi, Kazumitsu Sugiura, Akiharu Kubo, Yoshinao Muro, Yasushi Suga, Akemi Ishida-Yamamoto, Masashi Akiyama

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Biochemistry, Genetics and Molecular Biology

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