[Mutations of the rhodopsin gene and their phenotypic effects]

H Hübner ¹ , E Brzeziańska

1. Zakład Biologii i Genetyki Medycznej Instytutu Nauk Podstawowych WAM w Lodzi.

Published:

GICID: 01.3001.0000.3006

Available language versions: en pl

Issue: Postepy Hig Med Dosw 1994; 48 (6)

Abstract

Molecular pathogenic cause of Retinitis pigmentosa leading from different mutations in rhodopsin gene and dependences between dominant or recessive mutations and clinical effects have been described. Importance of molecular analysis of rhodopsin in prognosis this disease have been emphasized.