Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability

Investigative Ophthalmology and Visual Science

Volumn 38, Issue 6, 1997, Pages 1074-1081

  Kazmi, Manija A ^a   Sakmar, Thomas P ^b   Ostrer, Harry ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

Author keywords

color vision; cone opsin; G protein; photoreceptor genetic diseases

Indexed keywords

CADMIUM CHLORIDE; COMPLEMENTARY DNA; CYSTEINE; MUTANT PROTEIN; OPSIN; RHODOPSIN; SERINE; TRANSDUCIN;

ARTICLE; COLOR VISION DEFECT; CONTROLLED STUDY; DISULFIDE BOND; HUMAN; HUMAN CELL; MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STABILITY; RETINA CONE; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; CELL LINE; COLOR PERCEPTION; CONES (RETINA); CONSERVED SEQUENCE; CYSTEINE; DRUG STABILITY; ENDOPLASMIC RETICULUM; HUMANS; ISOMERISM; LIGHT; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; OPSIN; PROTEIN FOLDING; TRANSDUCIN; VISION DISORDERS; X CHROMOSOME;

EID: 0030989279     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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