High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

被引：0
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作者：
Marta Corton
Sorina D Tatu
Almudena Avila-Fernandez
Elena Vallespín
Ignacio Tapias
Diego Cantalapiedra
Fiona Blanco-Kelly
Rosa Riveiro-Alvarez
Sara Bernal
Blanca García-Sandoval
Montserrat Baiget
Carmen Ayuso
机构：
[1] IIS - Fundación Jiménez Díaz,Department of Genetics
[2] Fundación Jiménez Díaz,Department of Ophthalmology
[3] Instituto de Investigación Hospital de la Santa Creu i Sant Pau,Department of Genetics
[4] Centre for Biomedical Network Research on Rare Diseases (CIBERER),undefined
[5] ISCIII,undefined
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Leber congenital amaurosis; Early-onset retinitis pigmentosa; Homozygosity mapping; High resolution melting;
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