Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
Year: 2000
Type: article
Study design: Observational Study
Source: Human Molecular Genetics
Authors: S. Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, L T Sharpe, B Wissinger
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W2111637908