A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.

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Title: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Authors: Li, Yue1,2 (AUTHOR), Wang, Yumeng1 (AUTHOR), Ming, Yan1 (AUTHOR), Chaolan, Pan1 (AUTHOR), Jia, Zhang1 (AUTHOR), Cheng, Ni1 (AUTHOR), Qiaoyu, Cao1 (AUTHOR), Li, Ming1,3 (AUTHOR) liming01@xinhuamed.com.cn, Tianyi, Xu4 (AUTHOR) lmxuty@163.com
Source: BMC Medical Genomics. 11/1/2021, Vol. 14 Issue 1, p1-7. 7p.
Database: Academic Search Ultimate
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ISSN:17558794
DOI:10.1186/s12920-021-01109-4