A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

Ophthalmic Genetics

Volumn 25, Issue 2, 2004, Pages 133-145

  Yang, Zhenglin ^a,b,e   Li, Yang ^a   Jiang, Li ^a,b   Karan, Goutam ^b   Moshfeghi, Darius M ^a   O'Connor, Scott T ^a   Li, Xi ^b   Yu, Zhengya ^a   Lewis, Hilel ^a   Zack, Donald J ^c   Jacobson, Samuel G ^d   Zhang, Kang ^a,b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Adult onset foveomacular dystrophy; Butterfly shaped pattern dystrophy; RDS peripherin gene

Indexed keywords

GENE PRODUCT; PERIPHERIN; PROTEIN RDS; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BUTTERFLY SHAPED PATTERN DYSTROPHY; CLINICAL ARTICLE; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA PIGMENT EPITHELIOPATHY; VISUAL SYSTEM EXAMINATION;

ADULT; AGED; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 6344254498     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1080/13816810490514388     Document Type: Article

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