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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton, Marta; Tatu, Sorina D; Avila-Fernandez, Almudena; Vallespín, Elena; Tapias, Ignacio; Cantalapiedra, Diego; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Bernal, Sara; García-Sandoval, Blanca; Baiget, Montserrat; Ayuso, Carmen.
Affiliation
  • Corton M; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain.
Orphanet J Rare Dis ; 8: 20, 2013 Feb 05.
Article in En | MEDLINE | ID: mdl-23379534
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Proteins / Retinal Dystrophies / Membrane Proteins / Mutation / Nerve Tissue Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2013 Document type: Article Affiliation country: Spain Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Proteins / Retinal Dystrophies / Membrane Proteins / Mutation / Nerve Tissue Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2013 Document type: Article Affiliation country: Spain Country of publication: United kingdom