The spectrum of human rhodopsin disease mutations through the lens of interspecific variation
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference40 articles.
1. Mutations at position 125 in transmembrane helix III of rhodopsin affect the structure and signalling of the receptor;Andres;Eur. J. Biochem.,2001
2. Altered functionality in rhodopsin point mutations associated with retinitis pigmentosa;Andres;Biochem. Biophys. Res. Commun.,2003
3. Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients;Ayuso;Hum. Genet.,1996
4. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations;Berson;Investig. Ophthalmol. Vis. Sci.,2002
5. Structural and functional role of helices I and II in rhodopsin: a novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain;Bosch;J. Biol. Chem.,2003
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