ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1). Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for the analysis of ABCA4 variants. All probands...

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Detalles Bibliográficos
Autores principales: Hu, Fang-Yuan, Li, Jian-kang, Gao, Feng-Juan, Qi, Yu-He, Xu, Ping, Zhang, Yong-Jin, Wang, Dan-Dan, Wang, Lu-Sheng, Li, Wei, Wang, Min, Chen, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Zhang, Sheng-Hai, Chang, Qing, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739639/
https://www.ncbi.nlm.nih.gov/pubmed/31543898
http://dx.doi.org/10.3389/fgene.2019.00773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739639/
https://www.ncbi.nlm.nih.gov/pubmed/31543898
http://dx.doi.org/10.3389/fgene.2019.00773

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