由于一个预测视紫红质第15位天冬酰胺被丝氨酸替代的点突变导致的常染色体显性“扇形”视网膜色素变性。 - Suppr

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超能文献

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.

作者信息

Kranich H, Bartkowski S, Denton M J, Krey S, Dickinson P, Duvigneau C, Gal A

机构信息

Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.

出版信息

Hum Mol Genet. 1993 Jun;2(6):813-4. doi: 10.1093/hmg/2.6.813.

DOI:10.1093/hmg/2.6.813

PMID:8353500

Abstract

摘要

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Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.由于一个预测视紫红质第15位天冬酰胺被丝氨酸替代的点突变导致的常染色体显性“扇形”视网膜色素变性。

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