Correlation of genetic and clinical findings in spanish patients with X-linked juvenile retinoschisis

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 9, 2009, Pages 4342-4350

  Riveiro Alvarez, Rosa ^a,b   Trujillo Tiebas, Maria Jose ^a,b   Gimenez Pardo, Ascension ^a,b   Garcia Hoyos, Maria ^a,b   Lopez Martinez, Miguel Angel ^a,b   Aguirre Lamban, Jana ^a,b   Garcia Sandoval, Blanca ^a   del Pozo, Silvia Vazquez Fernandez ^a   Cantalapiedra, Diego ^a,b   Avila Fernandez, Almudena ^a,b   Biget, Montserrat ^b,c   Ramos, Carmen ^a,b   Ayuso, Carmen ^a,b  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c Hospital Sant Pau   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; EYE PROTEIN; RS1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEMIZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETINA DETACHMENT; RETINOSCHISIS; RS1 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SPAIN; STRABISMUS; VITREOUS HEMORRHAGE; X CHROMOSOME LINKED DISORDER; X LINKED RETINOSCHISIS; GENETICS; PEDIGREE;

EYE PROTEINS; GENETIC VARIATION; HAPLOTYPES; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DETACHMENT; RETINOSCHISIS; SPAIN; STRABISMUS; VITREOUS HEMORRHAGE;

EID: 70349254124     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3418     Document Type: Article

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