Publications:

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

Orphanet Journal Of Rare Diseases

Corton, Marta M; Tatu, Sorina D SD; Avila-Fernandez, Almudena A; Vallespín, Elena E; Tapias, Ignacio I; Cantalapiedra, Diego D; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Bernal, Sara S; García-Sandoval, Blanca B; Baiget, Montserrat M; Ayuso, Carmen C

Publication Date: 2013-02-05

Variant appearance in text: ABCA4: 2805dupA

PubMed Link: 23379534

Variant Present in the following documents:

• Main text
• 1750-1172-8-20.pdf

View BVdb publication page