Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: Hot spots for mutations in autosomal dominant cone-rod dystrophy?

Archives of Ophthalmology

Volumn 118, Issue 2, 2000, Pages 300-

  Weigell Weber, Maike ^a   Fokstuen, Siv ^a   Török, Bèla ^a   Niemeyer, Günter ^a   Schinzel, Albert ^a   Hergersberg, Martin ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 17P; CODON; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; LETTER; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD;

EID: 0343920837     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.118.2.300     Document Type: Letter

References (6)

1. Kesell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM. Localization of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet. 1997;6:597-600.
2. Perrault I, Rozet JM, Calvas P. et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet. 1996;14:461-464.
3. Kelsell RE, Gregory-Evans K, Payne AM, et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet. 1998;7:1179-1184.
4. Perrault I, Rozet JM, Gerber S et al. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet. 1998;63:651-654.
5. Wilson EM, Chinkers M. Identification of sequences mediating guanylyl cyclase dimerization. Biochemistry. 1995;34:4696-4701.
6. Laura RP, Dizhoor AM, Hurley JB. The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain. J Biol Chem. 1996;271:11646-11651.