Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Choufen Deng"'
Autor:
Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu, Choufen Deng, Yuanjuan Yang, Shuming Tan, Shuxiang Sun, Yuping Li, Tong Ou
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese po
Externí odkaz:
https://doaj.org/article/877d9d5c08bb4a498df3d0baa9a4e0d9
Autor:
Shuxiang Sun, Tong Ou, Yuping Li, Shuming Tan, Choufen Deng, Yuanjuan Yang, Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba5a0907fdceff6c1c812df4389fd71
https://doi.org/10.3389/fped.2021.654527
https://doi.org/10.3389/fped.2021.654527
Autor:
Yuping Li, Chenglong Zhou, Yangran Chen, Haihong shi, Qiang Chen, Ning Li, Qinlong Zeng, Yan Hong, Qing Li, Choufen Deng, Feng Zhou, Jieliang Tan, Mei Yang, Qiuli Li, Yingsong Yang, Jianjiang Feng, Shuxiang Sun, Ziqian Tang, Liangping Luo, Jia Tang
Background: CLIFAHDD is caused by mutation in NALCN and characterized by facial malformation, hypotonia, and developmental delay. Recently rare mutations in NALCN associated with of CLIFAHDD syndrome have been reported. Methods: Whole exome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c4a9138b4340cab7b846d83c48c2e3a
https://doi.org/10.21203/rs.3.rs-136131/v1
https://doi.org/10.21203/rs.3.rs-136131/v1
Autor:
Chenglong Zhou, Qinlong Zeng, Feng Zhou, Jia Tang, Jieliang Tan, Yuping Li, Yangran Chen, Liangping Luo, Qing Li, Mei Yang, Qiuli Li, Ziqian Tang, Yingsong Yang, Choufen Deng, Yan Hong, Jianjiang Feng, Haihong Shi, Qiang Chen, Shuxiang Sun, Ning Li
Background : CLIFAHDD is caused by mutation in NALCN and characterized by facial malformation, hypotonia, and developmental delay. Recently rare mutations in NALCN associated with of CLIFAHDD syndrome have been reported. Methods : Whole exome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d097d2c17ff1a91935a2e97bb1d18a6d
https://doi.org/10.21203/rs.3.rs-127028/v1
https://doi.org/10.21203/rs.3.rs-127028/v1