Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa

Ophthalmic Genetics

Volumn 17, Issue 4, 1996, Pages 193-197

  Haim, Marianne ^a   Grundmann, Kathrin ^b   Gal, Andreas ^b   Rosenberg, Thomas ^c  

^a GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Missense mutation; Retinitis pigmentosa; Rhodopsin

Indexed keywords

RHODOPSIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL EXAMINATION; DISEASE SEVERITY; FAMILY STUDY; FEMALE; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0030447033     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819609057893     Document Type: Article

References (9)

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