p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

Human mutation

Volumn 28, Issue 7, 2007, Pages 741-742

  Szabo, Viktoria ^a   Kreienkamp, Hans Jürgen ^a   Rosenberg, Thomas ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GNAT1 PROTEIN, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHEMICAL STRUCTURE; CHEMISTRY; DOMINANT GENE; FEMALE; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NIGHT BLINDNESS; PEDIGREE; RETINA ROD;

FEMALE; GENES, DOMINANT; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR STRUCTURE; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; RODS (RETINA);

EID: 34447647848     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9499     Document Type: Article

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