Records 1 - 2
| [Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Sep 39 (9): 988-991.
Zhao Ganye, Si Wenzhe, Zhao Xuechao, Liu Li'na, Wang Conghui, Kong Xiangdo
| PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
BMC medical genetics 2016 17 33.
Choi Rihwa, Park Hyung-Doo, Kang Ben, Choi So Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Choe Yon