The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

Progress in Retinal and Eye Research

Volumn 28, Issue 3, 2009, Pages 187-205

  Boon, Camiel J F ^a   Klevering, B Jeroen ^a   Leroy, Bart P ^b   Hoyng, Carel B ^a   Keunen, Jan E E ^a   den Hollander, Anneke I ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Adult onset foveomacular vitelliform dystrophy; Autosomal dominant vitreoretinochoroidopathy; Autosomal recessive bestrophinopathy; Best vitelliform macular dystrophy; BEST1; Bestrophin 1; Genotype phenotype correlation

Indexed keywords

BESTROPHIN 1; CALCIUM; CHLORIDE CHANNEL; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VISUAL PIGMENT;

AUTOSOMAL DOMINANT INHERITANCE; BASOLATERAL MEMBRANE; BEST1 GENE; CATARACT; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REGULATORY MECHANISM; RETINA MACULA DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; REVIEW;

ANIMALS; CHLORIDE CHANNELS; EYE DISEASES; EYE PROTEINS; GENOTYPE; HUMANS; MUTATION; OCULAR PHYSIOLOGICAL PHENOMENA; PHENOTYPE;

EID: 67349177030     PISSN: 13509462     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2009.04.002     Document Type: Review

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