Novel compound heterozygous mutations in < em > CYP1B1 < /em > identified in a Chinese family with developmental glaucoma

In conclusion, the findings of the present study suggested that the aforementioned compound heterozygous mutations in CYP1B1 may have caused developmental glaucoma in this Chinese family. The c.3G>A mutation in CYP1B1 is a novel mutation, and this study expands the gene mutation spectrum of CYP1B1.PMID:34528698 | DOI:10.3892/mmr.2021.12443

Source: Molecular Medicine Reports - September 16, 2021 Category: Molecular Biology Authors: Suping Cai Daren Zhang Xiaodong Jiao Tingting Wang Mengjie Fan Yun Wang James Fielding Hejtmancik Xuyang Liu Source Type: research