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Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments

To explore the pathogenic mechanism of dominant mutations affecting the carboxyl terminus of rhodopsin that cause retinitis pigmentosa, we generated five lines of transgenic mice carrying the proline-347 to serine (P347S) mutation. The severity of photoreceptor degeneration correlated with the level...

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Библиографические подробности
Главные авторы: Li, Tiansen, Snyder, Wendy K., Olsson, Jane E., Dryja, Thaddeus P.
Формат: Artigo
Язык:Inglês
Опубликовано: The National Academy of Sciences of the USA 1996
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC19513/
https://ncbi.nlm.nih.gov/pubmed/8943080
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