Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa

Molecular Vision

Volumn 18, Issue , 2012, Pages 1478-1483

  Blanco Kelly, Fiona ^a   García Hoyos, María ^a   Cortón, Marta ^a   Ávila Fernández, Almudena ^a   Riveiro Álvarez, Rosa ^a   Giménez, Ascensión ^a   Hernan, Inma ^b   Carballo, Miguel ^b   Ayuso, Carmen ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL DE TERRASSA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPING MICROARRAY; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RHO GENE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SPAIN;

ARTIFACTS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; GENES, DOMINANT; GENETIC TESTING; GENOTYPE; HUMANS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RETINITIS PIGMENTOSA; RHODOPSIN; SENSITIVITY AND SPECIFICITY; SPAIN;

EID: 84863301895     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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