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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Vallespin, Elena; Lopez-Martinez, Miguel-Angel; Cantalapiedra, Diego; Riveiro-Alvarez, Rosa; Aguirre-Lamban, Jana; Avila-Fernandez, Almudena; Villaverde, Cristina; Trujillo-Tiebas, Maria-Jose; Ayuso, Carmen.
Affiliation
  • Vallespin E; Department of Genetics, Fundacion Jimenez Diaz-CIBERER, Madrid, Spain. cayuso@fjd.es
Mol Vis ; 13: 2160-2, 2007 Nov 27.
Article in En | MEDLINE | ID: mdl-18079693
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Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Retinitis Pigmentosa / Blindness / Gene Frequency / Mutation / Antigens, Neoplasm / Neoplasm Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2007 Document type: Article Affiliation country: Spain Country of publication: United States
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Retinitis Pigmentosa / Blindness / Gene Frequency / Mutation / Antigens, Neoplasm / Neoplasm Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2007 Document type: Article Affiliation country: Spain Country of publication: United States