[Mutations of the rhodopsin gene and their phenotypic effects].
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.
Hübner
H
H
Zakład Biologii i Genetyki Medycznej Instytutu Nauk Podstawowych WAM w Lodzi.
Brzeziańska
E
E
D001483:Base Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D012243:Rhodopsin
Mutacje genu rodopsyny i ich fenotypowe nastepstwa.