A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

Ophthalmic Genetics

Volumn 19, Issue 3, 1998, Pages 149-156

  Ekström, Ulf ^a,c   Andréasson, Sten ^a   Ponjavic, Vesna ^a   Abrahamson, Magnus ^a   Sandgren, Ola ^b   Nilsson Ehle, Peter ^a   Ehinger, Berndt ^a  

^a LUND UNIVERSITY   (Sweden)

^b UMEÅ UNIVERSITY   (Sweden)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Full field electroretinography; Macular degeneration; Peripherin mutation; Tapetoretinal degeneration

Indexed keywords

ARGININE; PERIPHERIN; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CENTRAL SCOTOMA; CLINICAL ARTICLE; CONTROLLED STUDY; DARK ADAPTATION; DENATURING GRADIENT GEL ELECTROPHORESIS; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SWEDEN; VISION TEST; VISUAL FIELD;

EID: 0031736241     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.3.149.2186     Document Type: Article

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