Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Barragán, Isabel; Borrego, Salud; Pieras, Juan Ignacio; González-del Pozo, María; Santoyo, Javier; Ayuso, Carmen; Baiget, Montserrat; Millan, José M; Mena, Marcela; Abd El-Aziz, Mai M; Audo, Isabelle; Zeitz, Christina; Littink, Karin W; Dopazo, Joaquín; Bhattacharya, Shomi S; Antiñolo, Guillermo

Barragán, Isabel; Borrego, Salud; Pieras, Juan Ignacio; González-del Pozo, María; Santoyo, Javier; Ayuso, Carmen; Baiget, Montserrat; Millan, José M; Mena, Marcela; Abd El-Aziz, Mai M; Audo, Isabelle; Zeitz, Christina; Littink, Karin W; Dopazo, Joaquín; Bhattacharya, Shomi S; Antiñolo, Guillermo.

Affiliation

Barragán I; Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.

Hum Mutat ; 31(11): E1772-800, 2010 Nov.

Article in En | MEDLINE | ID: mdl-21069908

Subject(s)

Eye Proteins/genetics; Mutation; Retinitis Pigmentosa/genetics; Amino Acid Sequence; Animals; Case-Control Studies; DNA Mutational Analysis; Drosophila Proteins/genetics; Evolution, Molecular; Eye Proteins/chemistry; Female; Genes, Recessive; Genetic Variation; Humans; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single Nucleotide; Protein Structure, Tertiary; Spain; Structural Homology, Protein

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Full text: 1 Database: MEDLINE Main subject: Retinitis Pigmentosa / Eye Proteins / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2010 Type: Article

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