Cargando…
Mutational spectrum in a Chinese cohort with congenital cataracts
BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. METHODS: Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel‐based next‐generation sequencing, then cla...
Autores principales: | Liu, Hong‐Li, Zhang, Dao‐Wei, Hu, Fang‐Yuan, Xu, Ping, Zhang, Sheng‐Hai, Wu, Ji‐Hong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496047/ https://www.ncbi.nlm.nih.gov/pubmed/37337769 http://dx.doi.org/10.1002/mgg3.2196 |
Ejemplares similares
-
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort
por: Gao, Feng-Juan, et al.
Publicado: (2021) -
Mutation profiles of congenital cataract genes in 21 northern Chinese families
por: Zhang, Xiao Hui, et al.
Publicado: (2018) -
Mutation analysis of 12 genes in Chinese families with congenital cataracts
por: Sun, Wenmin, et al.
Publicado: (2011) -
Novel mutations in CRYGD are associated with congenital cataracts in Chinese families
por: Yang, Guoxing, et al.
Publicado: (2016) -
Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort
por: Li, Jian-Kang, et al.
Publicado: (2020)