TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy

AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESUL...

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Hlavní autoři: Xie, Ai-Rui, Cai, Su-Ping, Yang, Yin, Fan, Yin-Chuan, Yu, Wen-Han, Guo, Li-Heng, Yang, Qiao-Na, Zhu, Jin, Liu, Xu-Yang
Médium: Artigo
Jazyk:Inglês
Vydáno: International Journal of Ophthalmology Press 2011
Témata:
Clinical Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3340809/
https://ncbi.nlm.nih.gov/pubmed/22553661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2011.03.13
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