Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Nature Genetics

Volumn 13, Issue 3, 1996, Pages 358-360

  Dryja, T P ^a   Hahn, L B ^a   Reboul, T ^a   Arnaud, B ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYCLIC GMP PHOSPHODIESTERASE; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; PROTEIN P21; RAS PROTEIN; RHODOPSIN; TRANSDUCIN;

ALPHA CHAIN; ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAM; GENE; HUMAN; MISSENSE MUTATION; NIGHT BLINDNESS; PEDIGREE; PHOTOTRANSDUCTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA ROD; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; PEDIGREE; PHOTORECEPTORS; RETINAL DISEASES; TRANSDUCIN;

EID: 0029902034     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0796-358     Document Type: Article

References (0)