[HTML][HTML] Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene
L Zhu, Y Imanishi, S Filipek, A Alekseev… - Journal of biological …, 2006 - ASBMB
Retinitis pigmentosa (RP) is a heterogeneous group of hereditary disorders of the retina
caused by mutation in genes of the photoreceptor proteins with an autosomal dominant
(adRP), autosomal recessive (arRP), or X-linked pattern of inheritance. Although there are
over 100 identified mutations in the opsin gene associated with RP, only a few of them are
inherited with the arRP pattern. E150K is the first reported missense mutation associated
with arRP. This opsin mutation is located in the second cytoplasmic loop of this G protein …
caused by mutation in genes of the photoreceptor proteins with an autosomal dominant
(adRP), autosomal recessive (arRP), or X-linked pattern of inheritance. Although there are
over 100 identified mutations in the opsin gene associated with RP, only a few of them are
inherited with the arRP pattern. E150K is the first reported missense mutation associated
with arRP. This opsin mutation is located in the second cytoplasmic loop of this G protein …