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Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy

Mutations in the photoreceptor membrane guanylyl cyclase RetGC-1 have been linked to autosomal dominant cone–rod dystrophy. Three mutations were identified that alter strictly conserved residues within the RetGC-1 dimerization domain, a region predicted to form an amphipathic α-helical coil. Here we...

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Autors principals: Tucker, Chandra L., Woodcock, Sarah C., Kelsell, Rosemary E., Ramamurthy, Visvanathan, Hunt, David M., Hurley, James B.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC17728/
https://ncbi.nlm.nih.gov/pubmed/10430891
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