The landscape of submicroscopic structural variants at the
BCM
gene conversion
human visual pigment genes
locus control region
opsin gene deletion
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
05 07 2022
05 07 2022
Historique:
entrez:
27
6
2022
pubmed:
28
6
2022
medline:
30
6
2022
Statut:
ppublish
Résumé
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function and caused by mutations in the
Identifiants
pubmed: 35759666
doi: 10.1073/pnas.2115538119
pmc: PMC9271157
doi:
Substances chimiques
Rod Opsins
0
long-wavelength opsin
0
middle-wavelength opsin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2115538119Subventions
Organisme : Medical Research Council
ID : MR/R012121/1
Pays : United Kingdom
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