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

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

SEPT9 基因的重复与北美遗传性神经痛性肌萎缩症家族的创始人效应有关

Landsverk Megan L, Ruzzo Elizabeth K, Mefford Heather C, Buysse Karen, Buchan Jillian G, Eichler Evan E, Petty Elizabeth M, Peterson Esther A, Knutzen Dana M, Barnett Karen, Farlow Martin R, Caress Judy, Parry Gareth J, Quan Dianna, Gardner Kathy L, Hong Ming, Simmons Zachary, Bird Thomas D, Chance Phillip F, Hannibal Mark C

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

CC2D2A 在 Joubert 综合征中发生突变,并与纤毛病相关的基体蛋白 CEP290 相互作用。

Gorden, Nicholas T; Arts, Heleen H; Parisi, Melissa A; Coene, Karlien L M; Letteboer, Stef J F; van Beersum, Sylvia E C; Mans, Dorus A; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F; Ozyurek, Hamit; Dibooglu, Sel; Otto, Edgar A; Liu, Yangfan; Davis, Erica E; Hutter, Carolyn M; Bammler, Theo K; Farin, Frederico M; Dorschner, Michael; Topçu, Meral; Zackai, Elaine H; Rosenthal, Phillip; Owens, Kelly N; Katsanis, Nicholas; Vincent, John B; Hildebrandt, Friedhelm; Rubel, Edwin W; Raible, David W; Knoers, Nine V A M; Chance, Phillip F; Roepman, Ronald; Moens, Cecilia B; Glass, Ian A; Doherty, Dan