Cargando…
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy
Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. Variants in CHST6 gene have been recognized as the most critical genetic components in MCD. Although many CHST6...
Autores principales: | Zhang, Jing, Wu, Dan, Li, Yue, Fan, Yidan, Dai, Yiqin, Xu, Jianjiang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382428/ https://www.ncbi.nlm.nih.gov/pubmed/30716718 http://dx.doi.org/10.18632/aging.101807 |
Ejemplares similares
-
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
por: Sultana, Afia, et al.
Publicado: (2009) -
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
por: Birgani, Shiva Akbari, et al.
Publicado: (2009) -
CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy
por: Wang, Liyuan, et al.
Publicado: (2017) -
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
por: Dang, Xiuhong, et al.
Publicado: (2009) -
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6
por: Yaylacioglu Tuncay, Fulya, et al.
Publicado: (2016)