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

Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype

阐明Q145H SFTPC突变的机制揭示了一种剪接缺陷,并解释了表型的严重性。

Delestrain, Céline; Simon, Stéphanie; Aissat, Abdel; Medina, Rachel; Decrouy, Xavier; Nattes, Elodie; Tarze, Agathe; Costes, Bruno; Fanen, Pascale; Epaud, Ralph

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

NAGNAG 受体位点的选择性剪接作为新型表型修饰剂

Hinzpeter Alexandre, Aissat Abdel, Sondo Elvira, Costa Catherine, Arous Nicole, Gameiro Christine, Martin Natacha, Tarze Agathe, Weiss Laurence, de Becdelièvre Alix, Costes Bruno, Goossens Michel, Galietta Luis J, Girodon Emmanuelle, Fanen Pascale