Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis
Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from t...
Main Authors: | ZHANG Yingzi, XU Zhe, SHI Haitao, LIU Teng, ZHAO Yang |
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Format: | Article |
Language: | zho |
Published: |
Editorial Office of Journal of Rare Diseases
2022-07-01
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Series: | 罕见病研究 |
Subjects: | |
Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.016 |
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