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Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

作者信息

Souied E, Gerber S, Rozet J M, Bonneau D, Dufier J L, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A

机构信息

Service de Génétique, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.

出版信息

Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433.

DOI:10.1093/hmg/3.8.1433
PMID:7987331
Abstract
摘要

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Misfolded rhodopsin mutants display variable aggregation properties.错误折叠的视紫红质突变体表现出可变的聚集特性。
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