Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 11, 2009, Pages 5107-5114

  Pomares, Esther ^a,b   Riera, Marina ^a,b   Castro Navarro, Joaquín ^c   Andrés Gutiérrez, Ángeles ^d   Gonzàlez Duarte, Roser ^a,b   Marfany, Gemma ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^d HOSPITAL SAN AGUSTÍN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

EYE PROTEIN; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; RETINITIS PIGMENTOSA 2 GENE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON SKIPPING; EYE REFRACTION; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; IN VIVO STUDY; INTRON; MALE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 78049308239     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-3208     Document Type: Article

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