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TypeAuthor(s)TitleOther TitlesCitationCitation(alt)Issue Date
article (author version)Akiyama, Masashi; Sakai, Kaori; Sugiyama-Nakagiri, Yoriko; Yamanaka, Yasuko; McMillan, James R; Sawamura, Daisuke; Niizeki, Hironori; Miyagawa, Sachiko; Shimizu, HiroshiCompound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity-Journal of Investigative Dermatology-Jul-2006
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