Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
两家系报告有 HPS3 和 HPS4 基因出现新变异的 Hermansky-Pudlak 综合征患者
期刊:Genes
影响因子:
doi:10.3390/genes14010145
Qaiser Zaman, Sadeeda, Muhammad Anas, Gauhar Rehman, Qadeem Khan, Aiman Iftikhar, Mashal Ahmad, Muhammad Owais, Ilyas Ahmad, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Musharraf Jelani, Muhammad Imran Naseer