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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of phototransduction. Recently a mutation in the GUCA1A gene (coding for GCAP1) mapping to the 6p21.1 region was described as causing cone dystrop...

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Main Authors: Payne, A., Downes, S., Bessant, D., Plant, C., Moore, T., Bird, A., Bhattacharya, S.
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 1999
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734430/
https://ncbi.nlm.nih.gov/pubmed/10507726
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