类固醇硫酸酯酶（STS）的新型插入缺失突变是自愈性隐性X连锁鱼鳞病新表型的基础。 - Suppr

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

作者信息

Takeichi Takuya, Sugiura Kazumitsu, Hsu Chao-Kai, Tanahashi Kana, Takama Hiroyuki, Simpson Michael A, McGrath John A, Akiyama Masashi

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan; St. John's Institute of Dermatology, King's College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

出版信息

J Dermatol Sci. 2015 Sep;79(3):317-9. doi: 10.1016/j.jdermsci.2015.07.001. Epub 2015 Jul 6.

DOI:10.1016/j.jdermsci.2015.07.001

PMID:26169345

Abstract

摘要

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引用本文的文献

Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis.

J Int Med Res. 2020 Oct;48(10):300060520962292. doi: 10.1177/0300060520962292.

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Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

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