Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS

Ophthalmic Genetics

Volumn 19, Issue 1, 1998, Pages 27-37

  Ekström, Ulf ^a   Ponjavic, Vesna ^a   Abrahamson, Magnus ^a   Nilsson Ehle, Peter ^a   Andréasson, Sten ^a   Stenström, Ingeborg ^b   Ehinger, Berndt ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b Central Hospital of Örebro   (Sweden)

Author keywords

Full field electroretinography; Mutation; Peripherin; Retinitis pigmentosa

Indexed keywords

DNA; LEUCINE; PERIPHERIN; PHENYLALANINE;

ADOLESCENT; ADULT; AGED; AGING; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CONTROLLED STUDY; DARK ADAPTATION; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE FUNDUS; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN VARIANT; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SWEDEN; VISUAL ACUITY; VISUAL FIELD;

EID: 0031797571     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.1.27.2179     Document Type: Article

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