Khan, Kamron

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. [electronic resource] - Human molecular genetics Feb 2012 - 776-83 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddr509 doi


Basic Helix-Loop-Helix Transcription Factors--genetics
Consanguinity
DNA Mutational Analysis--methods
Eye--embryology
Eye Abnormalities--genetics
Eye Diseases--genetics
Eye Proteins--metabolism
Humans
Male
Mutation--genetics
Nerve Tissue Proteins--metabolism
Retina--pathology
beta Catenin--metabolism