Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Liang-Jie Guo"'
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Akademický článek
Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function
Autor: Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2.
Externí odkaz: https://doaj.org/article/bfa591f7ea7e4394a8cbb6b99508df8e
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5
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy
Autor: Hong Dan Wang, Dong Wu, Rui Li Wang, Jia Huang, Tao Li, Dao Quan Dong, Qian Nan Guo, Yue Wang, Liang Jie Guo, Hongyan Liu
Publikováno v: Journal of the Chinese Medical Association, Vol 79, Iss 11, Pp 633-638 (2016)
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene ( NDP ) in a Chinese family
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a91ff4b64f60da8e56d9578dfa3fb20
https://doi.org/10.1016/j.jcma.2016.08.002
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6
Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations
Autor: Hong Dan Wang, Fei Fei Huang, Liang Jie Guo, Tao Wang, Tao Li, Ying Tai Wang, Rui Li Wang, Dong Wu, Jia Huang, Qian Nan Guo, Yue Wang, Hongyan Liu
Publikováno v: Molecular Cytogenetics
Background Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079af39839dba1450b400843781e7921
https://doi.org/10.1186/s13039-016-0244-x
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