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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Hlavní autoři: Köhn, Linda, Kohl, Susanne, Bowne, Sara J, Sullivan, Lori S, Kellner, Ulrich, Daiger, Stephen P, Sandgren, Ola, Golovleva, Irina
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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Article
On-line přístup: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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