Publication
Title
Gene conversion between red and defective green opsin gene in blue cone monochromacy
Author
Abstract
Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion. (C) 1995 Academic Press, Inc.
Language
English
Source (journal)
Genomics: international journal of gene mapping and nucleotide sequencing. - San Diego, Calif.
Publication
San Diego, Calif. : 1995
ISSN
0888-7543
Volume/pages
29:2(1995), p. 323-328
ISI
A1995RY05500002
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 29.02.2012
Last edited 15.07.2017