Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

Ophthalmic Genetics

Volumn 24, Issue 4, 2003, Pages 215-223

  Andréasson, Sten ^a   Breuer, Debra K ^c,d   Eksandh, Louise ^a   Ponjavic, Vesna ^a   Frennesson, Christina ^b   Hiriyanna, Suja ^c   Filippova, Elena ^c   Yashar, Beverly M ^c,d   Swaroop, Anand ^c,d  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Full field ERG; Genotype phenotype correlations; ORF15; Photoreceptor degeneration; Retina; RP3

Indexed keywords

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE SEVERITY; EARLY DIAGNOSIS; EXON; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; MUTATOR GENE; OPEN READING FRAME; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; X CHROMOSOMAL INHERITANCE;

ADULT; AGED; CARRIER PROTEINS; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; OPEN READING FRAMES; PEDIGREE; PROTEINS; RETINITIS PIGMENTOSA; SWEDEN; VISUAL ACUITY; VISUAL FIELDS;

EID: 17444447573     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.24.4.215.17228     Document Type: Article

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