Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

Nature Genetics

Volumn 19, Issue 3, 1998, Pages 257-259

  Kohl, Susanne ^a   Marx, Tim ^b   Giddings, Ian ^a   Jägle, Herbert ^a   Jacobson, Samuel G ^c   Apfelstedt Sylla, Eckhart ^a   Zrenner, Eberhart ^a   Sharpe, Lindsay T ^a   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CYCLIC GMP;

ALPHA CHAIN; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2Q; CHROMOSOME MAP; COLOR BLINDNESS; CONGENITAL DISORDER; ELECTRORETINOGRAM; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHOTOPHOBIA; PHOTORECEPTOR; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA CONE; VISUAL IMPAIRMENT;

BASE SEQUENCE; COLOR VISION DEFECTS; CONES (RETINA); CYCLIC GMP; DNA, COMPLEMENTARY; FEMALE; HUMANS; ION CHANNEL GATING; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 0031803762     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/935     Document Type: Article

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