A novel missense mutation of [Formula omitted] gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine de...

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Veröffentlicht in:Journal of genetics 2017-12, Vol.96 (6), p.1021
Hauptverfasser: Liu, Shuai-Mei, Ni, Meng-Xia, Zhang, Ming-Chao, Zhu, Pei-Ran, Wu, Qiu-Yu, Jiang, Wei-Jun, Zhang, Jing
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Sprache:eng
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