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

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility

Hermansky-Pudlak 综合征肺成纤维细胞中肌球蛋白失调与细胞运动能力增强有关

Jewel Imani, Steven P M Bodine, Anthony M Lamattina, Diane D Ma, Shikshya Shrestha, Dawn M Maynard, Kevin Bishop, Arinze Nwokeji, May Christine V Malicdan, Lauren C Testa, Raman Sood, Benjamin Stump, Ivan O Rosas, Mark A Perrella, Robert Handin, Lisa R Young, Bernadette R Gochuico, Souheil El-Chemal

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

纯合性作图和全外显子组测序检测单个眼皮肤白化病和中性粒细胞减少症患者的 SLC45A2 和 G6PC3 突变

Andrew R Cullinane, Thierry Vilboux, Kevin O'Brien, James A Curry, Dawn M Maynard, Hannah Carlson-Donohoe, Carla Ciccone; NISC Comparative Sequencing Program; Thomas C Markello, Meral Gunay-Aygun, Marjan Huizing, William A Gahl