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

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy

NUP214 致病变异导致核孔通道“堵塞”和急性发热性脑病

Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardson

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

VPS45基因Thr224Asn突变与婴儿先天性中性粒细胞减少症和原发性骨髓纤维化有关

Polina Stepensky, Ann Saada, Marianne Cowan, Adi Tabib, Ute Fischer, Yackov Berkun, Hani Saleh, Natalia Simanovsky, Aviram Kogot-Levin, Michael Weintraub, Hamam Ganaiem, Avraham Shaag, Shamir Zenvirt, Arndt Borkhardt, Orly Elpeleg, Nia J Bryant, Dror Mevorach