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

页码：129 / 130

页数：2

共 50 条

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