High prevalence of mutations in the EYS gene in japanese patients with autosomal recessive retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 2, 2012, Pages 1033-1040

  Iwanami, Masaki ^a   Oshikawa, Mio ^a   Nishida, Tomomi ^a   Nakadomari, Satoshi ^a   Kato, Seishi ^a  

^a NATIONAL REHABILITATION CENTER FOR PERSONS WITH DISABILITIES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXON; EYES SHUT HOMOLOG GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; VISUAL ACUITY; VISUAL FIELD; ASIAN; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; RECESSIVE GENE;

EYE PROTEIN; EYS PROTEIN, HUMAN;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; RETINITIS PIGMENTOSA;

EID: 84859984473     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-9048     Document Type: Article

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