日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

HKG: an open genetic variant database of 205 Hong Kong cantonese exomes

HKG:一个包含205个香港粤语人群外显子组的开放式遗传变异数据库

Ou, Min; Leung, Henry Chi-Ming; Leung, Amy Wing-Sze; Luk, Ho-Ming; Yan, Bin; Liu, Chi-Man; Tong, Tony Ming-For; Mok, Myth Tsz-Shun; Ko, Wallace Ming-Yuen; Law, Wai-Chun; Lam, Tak-Wah; Lo, Ivan Fai-Man; Luo, Ruibang

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly

在香港患有自闭症特征、神经发育迟缓和巨头畸形的患者中,鉴定出一种 PTEN 突变,该突变导致蛋白质稳定性、磷酸酶活性和核定位降低。

Wong, Chi Wai; Or, Penelope Mei Yu; Wang, Yubing; Li, Lisha; Li, Jing; Yan, Mingfei; Cao, Ye; Luk, Ho Ming; Tong, Tony Ming For; Leslie, Nick R; Lo, Ivan Fai-Man; Choy, Kwong Wai; Chan, Andrew Man Lok