Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Si-Jie Wei"'
Autor:
Si-Jie Wei, Jin-Liang Du, Yue-Bing Wang, Peng-Fei Qu, Lin Ma, Zhong-Chun Sun, Xue Tang, Kai Liu, Yan-Mei Xi, Sheng-Jie Nie, Peng-Lin Jia, Wu Long, Yong-Qiang Qu, Yu-Hua Li, Pu-Ping Lei
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Objectives To explore the causes of sudden unexpected death (SUD) and to search for high-risk people, whole exome sequencing (WES) was performed in families with SUDs. Methods Whole exome sequencing of 25 people from 14 SUD families were scr
Externí odkaz:
https://doaj.org/article/61a48a03d8e34e888e36527d0e8221f3
Autor:
Wu, Long, Yue-Bing, Wang, Peng-Fei, Qu, Lin, Ma, Si-Jie, Wei, Yan-Mei, Xi, Jin-Liang, Du, Xue, Tang, Kai, Liu, Yu-Hua, Li, Pu-Ping, Lei
Publikováno v:
Journal of genetics. 101
A novel missense variant (NM_005327.7: c.99CG, p.Ile33Met) was discovered in 3-hydroxyacyl-CoA dehydrogenase (HADH), which is involved in congenital hyperinsulinism (CHI). This variant may be damaging or deleterious, as assessed using protein predict