Article
CNGA3 mutations in hereditary cone photoreceptor disorders.
American journal of human genetics - 1 Oct 2001
Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson S G, Sener E C, Tatlipinar S, Hoyng C B, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers F P, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe L T, Kohl S
Abstract excerpt
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.