Achromatopsia: The CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14

Wojciech Wiszniewski, Richard Alan Lewis, James R. Lupski

Research output: Contribution to journalArticlepeer-review

47 Scopus citations

Fingerprint

Dive into the research topics of 'Achromatopsia: The CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14'. Together they form a unique fingerprint.

Medicine & Life Sciences