학술논문
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
Document Type
Academic Journal
Author
Freund, Carol L.; Gregory-Evans, Cheryl Y.; Furukawa, Takahisa; Papaioannou, Myrto; Looser, Jens; Ploder, Lynda; Bellingham, James; Ng, David; Herbrick, Jo-Anne S.; Duncan, Alessandra; Scherer, Stephen W.; Tsui, Lap-Chee; Loutradis-Anagnostou, Aphrodite; Jacobson, Samuel G.; Cepko, Constance L.; Bhattacharya, Shomi S.; McInnes, Roderick R.
Source
Cell. Nov 14, 1997, Vol. 91 Issue 4, p543, 11 p. photograph
Subject
Language
ISSN
0092-8674
Abstract
A novel mode of mutation in photoreceptor-specific homeodomain transcription factor gene (CRX) was found to have caused an autosomal dominant form of cone-rod dystrophy. The locus of mutation which is at chromosome 19q13 was the site of the replacement of glutamic acid by alanine. These mutations were more likely to be the result of the paucity of function determined by the alleles.