A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree

Retina

Volumn 28, Issue 7, 2008, Pages 1013-1014

  Bass, Sherry J ^a,b   Noble, Kenneth G ^a  

^a NEW YORK UNIVERSITY   (United States)

^b STATE UNIVERSITY OF NEW YORK   (United States)

Author keywords

Autosomal dominant retinitis pigmentosa; Retinal degeneration; Thr17Met

Indexed keywords

GENOMIC DNA; METHIONINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHORIORETINOPATHY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LEUKOCYTE; MOLECULAR GENETICS; PEDIGREE; RETINITIS PIGMENTOSA;

AMINO ACID SUBSTITUTION; CHOROID DISEASES; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HUMANS; MUTATION, MISSENSE; PEDIGREE; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 67949112702     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e31816da918     Document Type: Article

References (5)

1. Bass SJ, Noble KG. Autosomal dominant pericentral retinochoroidal atrophy. Retina 2006;26:71-79.
2. Stone E. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc 2003;101:437-484.
3. Sung C-H, Davenport CM, Hennessy JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991;88:6481-6485.
4. Dryja TP, Hahn LB, Cowley GS, et al. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991;88:9370-9374.
5. Fishman GA, Stone EM, Sheffield VC, et al. Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol 1992;110:54-62.