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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB¬¬) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Ger...

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Detalhes bibliográficos
Main Authors: Köhn, Linda, Kohl, Susanne, Bowne, Sara J, Sullivan, Lori S, Kellner, Ulrich, Daiger, Stephen P, Sandgren, Ola, Golovleva, Irina
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4096809/
https://ncbi.nlm.nih.gov/pubmed/20590364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2010.486776
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