RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients

被引：0
|
作者：
Lopez-Rodriguez, Rosario [1 ]
Lantero, Esther [1 ]
Blanco-Kelly, Fiona [1 ]
Avila-Fernandez, Almudena [1 ]
Martin Merida, Inmaculada [1 ]
del Pozo-Valero, Marta [1 ]
Perea-Romero, Irene [1 ]
Zurita, Olga [1 ]
Jimenez-Rolando, Belen [2 ]
Tahsin Swafiri, Saoud [1 ]
Riveiro-Alvarez, Rosa [1 ]
Jose Trujillo-Tiebas, Maria [1 ]
Carreno Salas, Ester [2 ]
Garcia-Sandoval, Blanca [2 ]
Corton, Marta [1 ]
Ayuso, Carmen [1 ]
机构：
[1] Univ Autonoma Madrid IIS FJD UAM, Dept Genet & Gen, Inst Invest Sanitaria Fundac Jimenez Diaz Univ, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain
[2] Fdn Jimenez Diaz Univ Hosp FJD, Dept Ophthalmol, Madrid, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P02.039.D
引用
收藏
页码：129 / 130
页数：2
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