Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

Retina

Volumn 16, Issue 5, 1996, Pages 405-410

  Nakazawa, Mitsuru ^a   Naoi, Nobuhisa ^b   Wada, Yuko ^a   Nakazaki, Shuji ^b   Maruiwa, Futoshi ^b   Sawada, Atsushi ^b   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF MIYAZAKI   (Japan)

Author keywords

cone rod dystrophy; molecular genetics; peripherin RDS; phenotype genotype correlation ROM1

Indexed keywords

GLYCOPROTEIN; PERIPHERIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL ARTICLE; GENE MUTATION; GENOTYPE; HUMAN; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PHOTORECEPTOR; PROTEIN LOCALIZATION; RETINA CONE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA ROD OUTER SEGMENT;

ADULT; CHILD; DNA; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FUNDUS OCULI; GENOTYPE; GLUTAMINE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PHOTORECEPTORS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINA; RETINAL DEGENERATION; VALINE; VISUAL ACUITY; VISUAL FIELDS;

EID: 0029970778     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-199616050-00007     Document Type: Article

References (19)

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