Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 9, 2000, Pages 2735-2742

  Lorenz, B ^a   Gyurus, P ^a   Preising, M ^a   Bremser, D ^a   Gu, S ^a   Andrassi, M ^a   Gerth, C ^a   Gal, A ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RETINOL; RETINOL BINDING PROTEIN;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONGENITAL NYSTAGMUS; ELECTRORETINOGRAPHY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; OPHTHALMOSCOPY; PEDIGREE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY; VISUAL IMPAIRMENT;

AGE OF ONSET; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FUNDUS OCULI; HUMANS; INFANT; MALE; MUTATION; NYSTAGMUS, CONGENITAL; PERIMETRY; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; PIGMENT EPITHELIUM OF EYE; PROTEINS; RETINAL DEGENERATION; VISUAL ACUITY; VISUAL FIELDS;

EID: 0033862099     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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