Condition: Night Blindness, Congenital Stationary, Autosomal Dominant 1


rs104893789 in RHO gene and Night Blindness, Congenital Stationary, Autosomal Dominant 1 PMID 8358437 1993 Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

PMID 9888392 1999 A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.

PMID 8107847 1994 Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.

PMID 7846071 1995 Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

PMID 9380676 1997 Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

PMID 21094163 2011 Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

PMID 21219898 2011 Rod photoreceptor temporal properties in retinitis pigmentosa.

PMID 17488458 2007 Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

PMID 8088850 1994 Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PMID 7981701 1994 Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

PMID 12871954 2003 Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis.