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Inheritance and Mutations in a Single-Gene Disorder

Author: BioInteractive
Subject: Biochemistry
Source: BioInteractive
Creative Commons Attribution-NonCommercial-ShareAlike Image


This activity builds on information presented in the short film Genes as Medicine. Students interpret actual pedigrees to determine the inheritance pattern of Leber congenital amaurosis (LCA), an inherited form of blindness. They also examine protein sequence data to explore mutations that can cause LCA.

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