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

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

TUB基因的纯合突变与视网膜营养不良和肥胖症相关。

Borman, Arundhati Dev; Pearce, Laura R; Mackay, Donna S; Nagel-Wolfrum, Kerstin; Davidson, Alice E; Henderson, Robert; Garg, Sumedha; Waseem, Naushin H; Webster, Andrew R; Plagnol, Vincent; Wolfrum, Uwe; Farooqi, I Sadaf; Moore, Anthony T

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

对大量莱伯氏先天性黑蒙和视网膜色素变性患者进行筛查,发现了新的LCA5突变和新的基因型-表型相关性。

Mackay, Donna S; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L Ingeborgh; Berson, Eliot L; Ocaka, Louise A; Davidson, Alice E; Heckenlively, John R; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Qamar, Raheel; Webster, Andrew R; Cremers, Frans P M; Moore, Anthony T; Koenekoop, Robert K; Andreasson, Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I; Klaver, Caroline C W; Klevering, B Jeroen; Lorenz, Birgit; Preising, Markus N; Ramsear, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger, Bernd

NMNAT1 mutations cause Leber congenital amaurosis.

NMNAT1基因突变会导致莱伯氏先天性黑蒙症

Falk Marni J, Zhang Qi, Nakamaru-Ogiso Eiko, Kannabiran Chitra, Fonseca-Kelly Zoe, Chakarova Christina, Audo Isabelle, Mackay Donna S, Zeitz Christina, Borman Arundhati Dev, Staniszewska Magdalena, Shukla Rachna, Palavalli Lakshmi, Mohand-Said Saddek, Waseem Naushin H, Jalali Subhadra, Perin Juan C, Place Emily, Ostrovsky Julian, Xiao Rui, Bhattacharya Shomi S, Consugar Mark, Webster Andrew R, Sahel José-Alain, Moore Anthony T, Berson Eliot L, Liu Qin, Gai Xiaowu, Pierce Eric A