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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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Autors principals: Köhn, Linda, Kohl, Susanne, Bowne, Sara J, Sullivan, Lori S, Kellner, Ulrich, Daiger, Stephen P, Sandgren, Ola, Golovleva, Irina
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia: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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